OBJECTIVE: To evaluate the efficacy and safety of acupuncture for optic atrophy. DATA SOURCES: A computer-based online search was conducted in Medline (1966-2008), Embase (1986-2008), the Cochrane Library (up t...OBJECTIVE: To evaluate the efficacy and safety of acupuncture for optic atrophy. DATA SOURCES: A computer-based online search was conducted in Medline (1966-2008), Embase (1986-2008), the Cochrane Library (up to 2008), Chinese Biomedical Literature Database (1975-2008), China National Knowledge Infrastructure (1994-2008), VIP Database (1989-2008), Wanfang Database (1980-2008) and the National Research Register for ongoing trials. DATA SELECTION: Randomized, controlled trials addressing acupuncture treatment for patients with optic atrophy were included in this review. Inclusion criteria evaluated all forms of acupuncture therapy, such as filiform needle, electro-acupuncture, laser-acupuncture, acupressure, and auricular-acupuncture. Comparisons between acupuncture therapy and no treatment (blank) or placebo or Chinese medicine or Western medicine, as well as between acupuncture as an adjuvant and other treatments, were included. Exclusion criteria included studies comparing different forms of acupuncture therapy, different manipulations of acupuncture, and different acupuncture prescriptions, as well as non-randomized, controlled trials and animal studies. The domain-based evaluation criteria recommended by the guidelines in Chapter 8 of the Cochrane Handbook for Systematic Reviews of Interventions 5.0.1 was used to assess quality of the included studies. According to the type of outcome index, measurement data as assessed by weighted mean difference or standardized mean difference and 95% confidence interval; numeration data was estimated by relative risk and 95% confidence interval. Heterogeneity was analyzed by Meta-analysis using RevMan 5.0 software. MAIN OUTCOME MEASURES: Improved visual acuity and visual field was sought between treatment and control groups in the included articles. RESULTS: Seven randomized, controlled trials were included after screening and application of inclusion and exclusion criteria. However, the studies were of low methodological quality and lacked comparisons between acupuncture and no treatment or placebo. Applying visual acuity as the outcome index, meta-analysis indicated: the effect of medicine combined with acupuncture was superior to the medicine alone (relative risk = 1.41, 95% confidence interval 1.14-1.70, P 〈 0.01 ), the efficacy of acupuncture was better than medicine alone (relative risk =1.42, 95% confidence interval 1.14-1.77, P 〈 0.01 ). Using visual field as the other outcome index, meta-analysis revealed: effectiveness of acupuncture or acupuncture in combination with medicine was superior to medicine alone (relative risk = 1.47, 95% confidence interval 1.27-1.69, P 〈 0.01 ). The 7 included articles were incorporated in a sensitivity analysis, and the overall effect showed a significant difference (relative risk = 1.35, 95% confidence interval 1.16-1.56, P 〈 0.01). Acupuncture was not associated with any adverse events in any of the studies. CONCLUSION: Acupuncture therapy was determined to be superior to medicine in terms of improved visual acuity and visual field. However, well-designed, randomized, controlled trials with adequate controls and scientific rigor are urgently needed.展开更多
Objective:To explore the clinical effect of acupuncture combined with traditional Chinese medicine on optic nerve atrophy caused by neuromyelitis optic(NMO).Methods:the patients with optic atrophy caused by NMO with o...Objective:To explore the clinical effect of acupuncture combined with traditional Chinese medicine on optic nerve atrophy caused by neuromyelitis optic(NMO).Methods:the patients with optic atrophy caused by NMO with optic neuritis who visited the ophthalmology or neuro-ophthalmology clinic of our hospital from March 2016 to December 2019 were collected.The patients were treated with acupuncture and traditional Chinese medicine for 8 weeks before and after treatment.The best corrected visual acuity and dynamic visual field were tested before treatment,4 weeks and 8 weeks after treatment,respectively,to evaluate the effect of acupuncture combined with traditional Chinese medicine on the visual function of patients;Results:after 4 weeks of treatment,the visual acuity of 8 eyes improved more than 2 lines,the total effective rate was 91.67%.after 8 weeks of treatment,the visual acuity of 12 eyes improved more than 2 lines,the total effective rate was 100%;after 4 weeks of treatment,the mean defect(MD)and mean sensitivity(MS)of dynamic visual field were improved,but the difference was not statistically significant(MD:t=1.579,P=0.121;MS:t=-1.500,P=0.140);after 8 weeks of treatment,the MD was significantly decreased(t=2.65,P<0.05),and the MS was significantly improved and statistically significant(t=-2.58,P<0.05).Conclusion:the combination of acupuncture and Chinese medicine can significantly improve the visual function of patients with optic atrophy caused by NMO,improve the best corrected visual acuity and dynamic visual field sensitivity,and reduce the visual field defect.展开更多
OBJECTIVE:To investigate the bioactive compounds of Chaihu(Radix Bupleuri Chinensis)(RB)on glaucomatous optic atrophy(GOA),and to study the pharmacological mechanism.METHODS:We collected information on the bioactive c...OBJECTIVE:To investigate the bioactive compounds of Chaihu(Radix Bupleuri Chinensis)(RB)on glaucomatous optic atrophy(GOA),and to study the pharmacological mechanism.METHODS:We collected information on the bioactive compounds of RB from the Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform(TCMSP).Targets related to bioactive compounds and GOA were also obtained.Gene Ontology(GO),Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway and network analyses were performed to investigate the potential mechanism of RB against GOA.Subsequently,the main bioactive compounds of RB and targets of GOA were docked by Autodock software.Moreover,a GOA model of retinal ganglion cells(RGCs)induced by cobalt chloride was established to verify the effect of RB on GOA.RESULTS:There were 17 main bioactive compounds and 46 key targets were screened as potential players in GOA.The compound-target network mainly contained 17 compounds and 46 corresponding targets,and the key targets consisted of interleukin-6(IL-6),hypoxia inducible factor-1α(HIF1A),Caspase-3,estrogen receptor alpha(ESR1),MYC proto-oncogene(MYC),and vascular endothelial growth factor A(VEGFA).Forty-nine significantly enriched GO terms,and 134 KEGG signaling pathways were identified(P<0.05),including HIF-1,tumor necrosis factor,VEGF,prolaction,and other signaling pathways.Molecular docking results showed that the main bioactive compounds of RB exhibited the strongest binding activity with IL-6.Furthermore,experimental validation showed that the RB extract inhibited the activity and promoted apoptosis of RGCs in a dose-dependent manner.The RB extract also suppressed the expression of Bax,Caspase-3,and Caspase-9 and regulated malonaldehyde,superoxide dismutase,and glutathione peroxide by inhibiting the IL-6/HIF-1αsignaling pathway.CONCLUSIONS:The present study provided insights into the mechanism of RB on GOA.RB mainly reverses GOA by inhibiting the IL-6/HIF-1αsignaling pathway.展开更多
The C12orf65 gene is a nuclear gene that encodes a mitochondrial matrix protein contributing to mitochondrial translation. C12orf65 gene-related diseases are rare and present with large heterophenotypes. Most of the r...The C12orf65 gene is a nuclear gene that encodes a mitochondrial matrix protein contributing to mitochondrial translation. C12orf65 gene-related diseases are rare and present with large heterophenotypes. Most of the reported patients have had optic atrophy with intellectual disability, encephalomyopathy, spastic paraplegia, and ophthalmoplegia. Peripheral neuropathy has been reported in one thmily. Here, we report a case of a Chinese patient with optic atrophy and distal motor neuropathy due to a novel compound heterozygous mutation in the C12orf65 gene.展开更多
Objective: To observe the clinical effect of mild moxibustion plus acupoint injection for optic atrophy. Methods: Ninety-four patients with optic atrophy were divided into a treatment group (51 cases) and a contr...Objective: To observe the clinical effect of mild moxibustion plus acupoint injection for optic atrophy. Methods: Ninety-four patients with optic atrophy were divided into a treatment group (51 cases) and a control group (43 cases). The treatment group was treated with mild moxibustion plus acupoint injection, and the control group was treated with medications. After three courses, the change of vision was observed. Results: The total effective rate was 82.4% in the treatment group and 41.9% in the control group, with a statistical difference between the two groups (P〈O.05). Conclusion: Moxibustion plus acupoint injection is an effective method to treat optic atrophy.展开更多
Objective: To observe the effects of acupuncture in the treatment of patients with optic atrophy and the change of their visual electrophysiology.Methods: Thirty-six patients (63 eyes) with optic atrophy were treated ...Objective: To observe the effects of acupuncture in the treatment of patients with optic atrophy and the change of their visual electrophysiology.Methods: Thirty-six patients (63 eyes) with optic atrophy were treated with acupuncture. The visual acuity and flash visual evoked potential (F-VEP) before and after treatment were compared.Results: The visual acuity of 46 eyes among 63 eyes (73 %) was improved. The average amplitude of F-VEP increased (P < 0.05).Conclusion: Acupuncture can be used in the treatment of optic atrophy.展开更多
Objective: Optical Nerve Atrophy is one of the most common causes of blindness worldwide. The condition is linked to several pathologies, which contribute to the damage of the optic nerve. The presence of a tumor on t...Objective: Optical Nerve Atrophy is one of the most common causes of blindness worldwide. The condition is linked to several pathologies, which contribute to the damage of the optic nerve. The presence of a tumor on the optic nerve, improper formation of the optic nerve, glaucoma, hereditary and central nervous system diseases, and anterior ischemic optic neuropathy promote deterioration of the optic nerve. The purpose of this review is to examine the efficacy of acupuncture therapy for ONA. Method: Clinical trials (case control-trials), and randomized control trials (RCTs) were assessed to observe the efficacy of acupuncture as well as the safety of acupuncture, needling manipulation, and acupoints selection. The data collected in this research include scientific research papers from China National Knowledge Infrastructure (CNKI), PUBMED library, National Library of Medicine (NLM), EMBASE, Cochrane Library, Chinese Biomedical Literature Database, and other literature library date present. Ophthalmoscope, OCT, pupils test, ocular alignment, nystagmus, and visual acuity check were the diagnostic tools used for ONA in the included study. ONA treatment has been a challenge to ophthalmologists over the past decades. At present, western approaches have no fixed treatment mechanism for the condition. Early diagnosis, the use of magnifying lenses, and reduction of increased fluid around the spinal cord and brain are the multiple disciplinary approaches used in western medicine for ONA. On the other hand, Acupuncture, a branch of traditional Chinese medicine, which stimulates the body’s natural healing ability to promote physical and emotional well-being, has reported some significant treatment effects for ONA. Result: The overall result shows that Acupuncture greatly improved patients’ visual acuity, visual field, and visual function in the included study. Acupuncture acting alone showed significant superiority over other treatments for optical nerve atrophy. Acupuncture combined with medication could improve a patient’s condition more rapidly than medications alone. Conclusion: Optic nerve atrophy is a threatening condition to the vision, which is a leading cause of blindness worldwide. Acupuncture has improved the condition of patients with ONA more effectively than other treatment mechanisms in the included study. However, more clinical trials need to be carried out to substantiate stronger evidence of acupuncture for ONA.展开更多
Mitochondria undergo morphological changes during spermatogenesis in some animals.The mechanism and role of mitochondrial morphology regulation,however,remain somewhat unclear.In this study,we analyzed the molecular c...Mitochondria undergo morphological changes during spermatogenesis in some animals.The mechanism and role of mitochondrial morphology regulation,however,remain somewhat unclear.In this study,we analyzed the molecular characteristics,expression dynamics and subcellular localization of optic atrophy protein 1(OPA1),a mitochondrial fusion and cristae maintenance-related protein,to reveal the possible regulatory mechanisms underlying mitochondrial morphology in Phascolosoma esculenta spermiogenesis.The full-length cDNA of the P.esculenta opa1 gene(Pe-opa1)is 3743 bp in length and encodes 975 amino acids.The Pe-OPA1 protein is highly conservative and includes a transmembrane domain,a GTPase domain,two helical bundle domains,and a lipid-interacting stalk.Gene and protein expression was higher in the coelomic fluid(a site of spermatid development)of male P.esculenta and increased first and then decreased from March to December.Moreover,their expression during the breeding stage was significantly higher than during the non-breeding stage,suggesting that Pe-OPA1 is involved in P.esculenta reproduction.The Pe-OPA1 protein was more abundant in components consisting of many spermatids than in components without,indicating that Pe-OPA1 mainly plays a role in the spermatid in coelomic fluid.Moreover,Pe-OPA1 was mainly detected in the spermatid mitochondria.Immunofluorescence experiments showed that the Pe-OPA1 are constitutively expressed and co-localized with mitochondria during spermiogenesis,suggesting its involvement in P.esculenta spermiogenesis.These results provide evidence for Pe-OPA1's involvement in the regulation of mitochondrial morphology during spermiogenesis.展开更多
Hereditary,metabolic and toxic optic neuropathies cause bilateral,central vision loss and therefore can result in severe impairment in visual function.Accurate,early diagnosis is critical,as nutritional and toxic opti...Hereditary,metabolic and toxic optic neuropathies cause bilateral,central vision loss and therefore can result in severe impairment in visual function.Accurate,early diagnosis is critical,as nutritional and toxic optic neuropathies may be reversible if identified early,and diagnosis of hereditary optic neuropathies can prevent unnecessary invasive workup,provide prognostic information,and allow for effective genetic counseling.Optical coherence tomography(OCT)is a valuable tool that aids in the diagnosis and prognostication of optic neuropathies as it allows for quantification of changes in the retinal ganglion cells(RGCs)and retinal nerve fiber layer(RNFL)over time.We review the characteristic clinical presentations of hereditary,metabolic and toxic optic neuropathies,with an emphasis on OCT findings.展开更多
Dominant optic atrophy(DOA)is an inherited optic neuropathy and more than 75%of DOA patients harbor pathogenic mutations in OPA1.We reported a 39-year-old female harboring c.2119G>T mutation of OPA1 and manifested ...Dominant optic atrophy(DOA)is an inherited optic neuropathy and more than 75%of DOA patients harbor pathogenic mutations in OPA1.We reported a 39-year-old female harboring c.2119G>T mutation of OPA1 and manifested progressive visual impairment after hydroxychloroquine(HCQ)therapy.The patient’s visual impairment remained stable for 10 years until she began to take HCQ 13 months ago.She complained about progressively decreased vision in both eyes.Bilateral pale temporal optic disc was similar with that of 11 years ago.Optical coherence tomography showed bilateral moderate retinal nerve fiber layer thinning other than the nasal quadrant and general thinning of the inner retina in the macular.Microcystic macular edema was noted in nasal macular in both eyes.Visual field testing showed paracentral scotoma and microperimetry showed decrease sensitivity in the macular in both eyes.After the patient stopped taking HCQ,her functional tests including visual acuity,field testing and microperimetry testing was stable compared with those of 2 years ago.However,progressive inner macular and RNFL thinning was shown by OCT.OPA1 c.2119 G>T found in this patient was a mutation that had been rarely reported in previous studies.The patient has been followed up for over 10 years and her visual acuity stayed stable for decades long until she took HCQ for 13 months.Her vision decline terminated after she stopped taking HCQ.Although HCQ toxicity is highly related to the duration and daily dose,HCQ may aggravate visual impairment in certain individuals harboring OPA1 mutation.Patients with DOA should avoid using neurotoxic HCQ and other medications that may interfere mitochondrial metabolism.展开更多
Background NR2F1 mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome(BBSOAS).Although~46.7%of BBSOAS patients present with epilepsy,which is always drug-resistant and associated with higher rate...Background NR2F1 mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome(BBSOAS).Although~46.7%of BBSOAS patients present with epilepsy,which is always drug-resistant and associated with higher rates of behavioral and cognitive problems,the treatment and outcomes of NR2F1-related epilepsy have rarely been described.Here,we present new cases of BBSOAS-related epilepsy and summarize all previously reported cases to explore the effective treatment for this type of epilepsy.Methods We identified six new Chinese cases of BBSOAS with epilepsy.Five different de novo heterozygous NR2F1 mutations were identified in these cases,including two novel mutations c.365G>T,p.Cys122Phe and c.449G>T,p.Gly150Val.By combining the six cases and 14 previously reported cases,we analyzed the characteristics and treatment outcomes of NR2F1-related epilepsy.Results Twelve of the 20 patients(60%)had infantile epileptic spasms,while the other patients had generalized tonic/tonic-clonic,focal,myoclonic,absence,or unclassified seizures.Several anti-seizure medications,steroids,and a ketogenic diet were administered in these cases.However,seizures were controlled in only 50%of previously reported cases,while all of the six new cases became seizure-free after perampanel as an add-on treatment.The average time from the addition of perampanel to seizure control was 7.33±4.59 months(range,1–12 months).The median time to seizure freedom was 14 months(1–32 months,>19 months in 3 cases).The average dosage of perampanel needed for epilepsy control was 0.22±0.17 mg/kg per day.Conclusions In this paper,we comprehensively summarized the clinical characteristics,treatments and outcomes of NR2F1-related epilepsy for the first time.Perampanel exhibits dramatic efficacy for NR2F1-related epilepsy.This will help optimize the treatment of this type of epilepsy and provide clues for its pathogenic mechanisms.The two novel mutations expand the genotype spectrum of this disease.展开更多
Prohibitin is named due to the negative regulatory role of its gene products in cell proliferation. Prohibitin gene is located at q21 of chromosome 17 in human beings and the protein is found at mitochondria, nucleus...Prohibitin is named due to the negative regulatory role of its gene products in cell proliferation. Prohibitin gene is located at q21 of chromosome 17 in human beings and the protein is found at mitochondria, nucleus and cytoplasm. Due to its size and ring-shaped structure, prohibitin protein defines functional subcompartments in mitochondria. Its subunits, PHB1 and PHB2, suppress cell proliferation as in the protein itself Nevertheless, recent investigation suggests that prohibitin protein enhances cell proliferation as well. It has also been found to suppress cell apoptosis by reducing cytochrome C release via the avoidance of mitochondrial crista remodeling which is facilitated through type 1 optic atrophy protein (OPAl). Acting as a binding site for ubiquitin, prohibitin protein regulates protein degradation by proteasome. Examples are the degradations of sperm mitochondria in a fertilized ovum or those of an abnormal sperm.展开更多
基金Supported by: the National Key Basic ResearchDevelopment Plan Program of China, No. 2006CB504501
文摘OBJECTIVE: To evaluate the efficacy and safety of acupuncture for optic atrophy. DATA SOURCES: A computer-based online search was conducted in Medline (1966-2008), Embase (1986-2008), the Cochrane Library (up to 2008), Chinese Biomedical Literature Database (1975-2008), China National Knowledge Infrastructure (1994-2008), VIP Database (1989-2008), Wanfang Database (1980-2008) and the National Research Register for ongoing trials. DATA SELECTION: Randomized, controlled trials addressing acupuncture treatment for patients with optic atrophy were included in this review. Inclusion criteria evaluated all forms of acupuncture therapy, such as filiform needle, electro-acupuncture, laser-acupuncture, acupressure, and auricular-acupuncture. Comparisons between acupuncture therapy and no treatment (blank) or placebo or Chinese medicine or Western medicine, as well as between acupuncture as an adjuvant and other treatments, were included. Exclusion criteria included studies comparing different forms of acupuncture therapy, different manipulations of acupuncture, and different acupuncture prescriptions, as well as non-randomized, controlled trials and animal studies. The domain-based evaluation criteria recommended by the guidelines in Chapter 8 of the Cochrane Handbook for Systematic Reviews of Interventions 5.0.1 was used to assess quality of the included studies. According to the type of outcome index, measurement data as assessed by weighted mean difference or standardized mean difference and 95% confidence interval; numeration data was estimated by relative risk and 95% confidence interval. Heterogeneity was analyzed by Meta-analysis using RevMan 5.0 software. MAIN OUTCOME MEASURES: Improved visual acuity and visual field was sought between treatment and control groups in the included articles. RESULTS: Seven randomized, controlled trials were included after screening and application of inclusion and exclusion criteria. However, the studies were of low methodological quality and lacked comparisons between acupuncture and no treatment or placebo. Applying visual acuity as the outcome index, meta-analysis indicated: the effect of medicine combined with acupuncture was superior to the medicine alone (relative risk = 1.41, 95% confidence interval 1.14-1.70, P 〈 0.01 ), the efficacy of acupuncture was better than medicine alone (relative risk =1.42, 95% confidence interval 1.14-1.77, P 〈 0.01 ). Using visual field as the other outcome index, meta-analysis revealed: effectiveness of acupuncture or acupuncture in combination with medicine was superior to medicine alone (relative risk = 1.47, 95% confidence interval 1.27-1.69, P 〈 0.01 ). The 7 included articles were incorporated in a sensitivity analysis, and the overall effect showed a significant difference (relative risk = 1.35, 95% confidence interval 1.16-1.56, P 〈 0.01). Acupuncture was not associated with any adverse events in any of the studies. CONCLUSION: Acupuncture therapy was determined to be superior to medicine in terms of improved visual acuity and visual field. However, well-designed, randomized, controlled trials with adequate controls and scientific rigor are urgently needed.
基金General Project of National Natural Science Foundation of China(No.81574029)。
文摘Objective:To explore the clinical effect of acupuncture combined with traditional Chinese medicine on optic nerve atrophy caused by neuromyelitis optic(NMO).Methods:the patients with optic atrophy caused by NMO with optic neuritis who visited the ophthalmology or neuro-ophthalmology clinic of our hospital from March 2016 to December 2019 were collected.The patients were treated with acupuncture and traditional Chinese medicine for 8 weeks before and after treatment.The best corrected visual acuity and dynamic visual field were tested before treatment,4 weeks and 8 weeks after treatment,respectively,to evaluate the effect of acupuncture combined with traditional Chinese medicine on the visual function of patients;Results:after 4 weeks of treatment,the visual acuity of 8 eyes improved more than 2 lines,the total effective rate was 91.67%.after 8 weeks of treatment,the visual acuity of 12 eyes improved more than 2 lines,the total effective rate was 100%;after 4 weeks of treatment,the mean defect(MD)and mean sensitivity(MS)of dynamic visual field were improved,but the difference was not statistically significant(MD:t=1.579,P=0.121;MS:t=-1.500,P=0.140);after 8 weeks of treatment,the MD was significantly decreased(t=2.65,P<0.05),and the MS was significantly improved and statistically significant(t=-2.58,P<0.05).Conclusion:the combination of acupuncture and Chinese medicine can significantly improve the visual function of patients with optic atrophy caused by NMO,improve the best corrected visual acuity and dynamic visual field sensitivity,and reduce the visual field defect.
基金Natural Science Foundation of Heilongjiang Province Project:Study on the Protective Effect of Tongqiao Mingmu No.4 on Retinal RGCs in Glaucoma based on Mitochondrial Apoptosis Pathway (No.QC2018115)Special Scientific Research Project of Henan Clinical Research Base of Traditional Chinese Medicine Project:Study on the Mechanism of Tongqiao Mingmu Decoction in the Treatment of Glaucomatous Optic Nerve Atrophy Based on p53-SLC7A11 Mediated RGC Ferroptosis to Regulate Microglial Cell Polarization (No.2022ZDZX127)
文摘OBJECTIVE:To investigate the bioactive compounds of Chaihu(Radix Bupleuri Chinensis)(RB)on glaucomatous optic atrophy(GOA),and to study the pharmacological mechanism.METHODS:We collected information on the bioactive compounds of RB from the Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform(TCMSP).Targets related to bioactive compounds and GOA were also obtained.Gene Ontology(GO),Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway and network analyses were performed to investigate the potential mechanism of RB against GOA.Subsequently,the main bioactive compounds of RB and targets of GOA were docked by Autodock software.Moreover,a GOA model of retinal ganglion cells(RGCs)induced by cobalt chloride was established to verify the effect of RB on GOA.RESULTS:There were 17 main bioactive compounds and 46 key targets were screened as potential players in GOA.The compound-target network mainly contained 17 compounds and 46 corresponding targets,and the key targets consisted of interleukin-6(IL-6),hypoxia inducible factor-1α(HIF1A),Caspase-3,estrogen receptor alpha(ESR1),MYC proto-oncogene(MYC),and vascular endothelial growth factor A(VEGFA).Forty-nine significantly enriched GO terms,and 134 KEGG signaling pathways were identified(P<0.05),including HIF-1,tumor necrosis factor,VEGF,prolaction,and other signaling pathways.Molecular docking results showed that the main bioactive compounds of RB exhibited the strongest binding activity with IL-6.Furthermore,experimental validation showed that the RB extract inhibited the activity and promoted apoptosis of RGCs in a dose-dependent manner.The RB extract also suppressed the expression of Bax,Caspase-3,and Caspase-9 and regulated malonaldehyde,superoxide dismutase,and glutathione peroxide by inhibiting the IL-6/HIF-1αsignaling pathway.CONCLUSIONS:The present study provided insights into the mechanism of RB on GOA.RB mainly reverses GOA by inhibiting the IL-6/HIF-1αsignaling pathway.
基金This study was supported by a grant of the National Natural Science Foundation of China (No. 81471185).Acknowledgments We thank the patient and her family for their participation in this study. We also thank the MyGenome Institute for their kind administrative assistance.
文摘The C12orf65 gene is a nuclear gene that encodes a mitochondrial matrix protein contributing to mitochondrial translation. C12orf65 gene-related diseases are rare and present with large heterophenotypes. Most of the reported patients have had optic atrophy with intellectual disability, encephalomyopathy, spastic paraplegia, and ophthalmoplegia. Peripheral neuropathy has been reported in one thmily. Here, we report a case of a Chinese patient with optic atrophy and distal motor neuropathy due to a novel compound heterozygous mutation in the C12orf65 gene.
基金supported by Taihe Hospital Affiliated to Hubei Medical College
文摘Objective: To observe the clinical effect of mild moxibustion plus acupoint injection for optic atrophy. Methods: Ninety-four patients with optic atrophy were divided into a treatment group (51 cases) and a control group (43 cases). The treatment group was treated with mild moxibustion plus acupoint injection, and the control group was treated with medications. After three courses, the change of vision was observed. Results: The total effective rate was 82.4% in the treatment group and 41.9% in the control group, with a statistical difference between the two groups (P〈O.05). Conclusion: Moxibustion plus acupoint injection is an effective method to treat optic atrophy.
文摘Objective: To observe the effects of acupuncture in the treatment of patients with optic atrophy and the change of their visual electrophysiology.Methods: Thirty-six patients (63 eyes) with optic atrophy were treated with acupuncture. The visual acuity and flash visual evoked potential (F-VEP) before and after treatment were compared.Results: The visual acuity of 46 eyes among 63 eyes (73 %) was improved. The average amplitude of F-VEP increased (P < 0.05).Conclusion: Acupuncture can be used in the treatment of optic atrophy.
文摘Objective: Optical Nerve Atrophy is one of the most common causes of blindness worldwide. The condition is linked to several pathologies, which contribute to the damage of the optic nerve. The presence of a tumor on the optic nerve, improper formation of the optic nerve, glaucoma, hereditary and central nervous system diseases, and anterior ischemic optic neuropathy promote deterioration of the optic nerve. The purpose of this review is to examine the efficacy of acupuncture therapy for ONA. Method: Clinical trials (case control-trials), and randomized control trials (RCTs) were assessed to observe the efficacy of acupuncture as well as the safety of acupuncture, needling manipulation, and acupoints selection. The data collected in this research include scientific research papers from China National Knowledge Infrastructure (CNKI), PUBMED library, National Library of Medicine (NLM), EMBASE, Cochrane Library, Chinese Biomedical Literature Database, and other literature library date present. Ophthalmoscope, OCT, pupils test, ocular alignment, nystagmus, and visual acuity check were the diagnostic tools used for ONA in the included study. ONA treatment has been a challenge to ophthalmologists over the past decades. At present, western approaches have no fixed treatment mechanism for the condition. Early diagnosis, the use of magnifying lenses, and reduction of increased fluid around the spinal cord and brain are the multiple disciplinary approaches used in western medicine for ONA. On the other hand, Acupuncture, a branch of traditional Chinese medicine, which stimulates the body’s natural healing ability to promote physical and emotional well-being, has reported some significant treatment effects for ONA. Result: The overall result shows that Acupuncture greatly improved patients’ visual acuity, visual field, and visual function in the included study. Acupuncture acting alone showed significant superiority over other treatments for optical nerve atrophy. Acupuncture combined with medication could improve a patient’s condition more rapidly than medications alone. Conclusion: Optic nerve atrophy is a threatening condition to the vision, which is a leading cause of blindness worldwide. Acupuncture has improved the condition of patients with ONA more effectively than other treatment mechanisms in the included study. However, more clinical trials need to be carried out to substantiate stronger evidence of acupuncture for ONA.
基金the Ningbo Science and Technology Plan Projects(Nos.2019B10016,2016C10004)the Major Science and Technology Projects in Zhejiang Province(No.2011C12013)+1 种基金the Natural Science Foundation of Zhejiang Province(No.LY18C190007)the Collaborative Innovation Center for Zhejiang Marine High-efficiency and Healthy Aquaculture,the K.C.Wong Magna Fund in Ningbo University。
文摘Mitochondria undergo morphological changes during spermatogenesis in some animals.The mechanism and role of mitochondrial morphology regulation,however,remain somewhat unclear.In this study,we analyzed the molecular characteristics,expression dynamics and subcellular localization of optic atrophy protein 1(OPA1),a mitochondrial fusion and cristae maintenance-related protein,to reveal the possible regulatory mechanisms underlying mitochondrial morphology in Phascolosoma esculenta spermiogenesis.The full-length cDNA of the P.esculenta opa1 gene(Pe-opa1)is 3743 bp in length and encodes 975 amino acids.The Pe-OPA1 protein is highly conservative and includes a transmembrane domain,a GTPase domain,two helical bundle domains,and a lipid-interacting stalk.Gene and protein expression was higher in the coelomic fluid(a site of spermatid development)of male P.esculenta and increased first and then decreased from March to December.Moreover,their expression during the breeding stage was significantly higher than during the non-breeding stage,suggesting that Pe-OPA1 is involved in P.esculenta reproduction.The Pe-OPA1 protein was more abundant in components consisting of many spermatids than in components without,indicating that Pe-OPA1 mainly plays a role in the spermatid in coelomic fluid.Moreover,Pe-OPA1 was mainly detected in the spermatid mitochondria.Immunofluorescence experiments showed that the Pe-OPA1 are constitutively expressed and co-localized with mitochondria during spermiogenesis,suggesting its involvement in P.esculenta spermiogenesis.These results provide evidence for Pe-OPA1's involvement in the regulation of mitochondrial morphology during spermiogenesis.
基金This work was supported by an unrestricted grant from the Research to Prevent Blindness to the Washington University Department of Ophthalmology and Visual Sciences,and by a Research Award from the Vitreoretinal Surgery Foundation(JE).
文摘Hereditary,metabolic and toxic optic neuropathies cause bilateral,central vision loss and therefore can result in severe impairment in visual function.Accurate,early diagnosis is critical,as nutritional and toxic optic neuropathies may be reversible if identified early,and diagnosis of hereditary optic neuropathies can prevent unnecessary invasive workup,provide prognostic information,and allow for effective genetic counseling.Optical coherence tomography(OCT)is a valuable tool that aids in the diagnosis and prognostication of optic neuropathies as it allows for quantification of changes in the retinal ganglion cells(RGCs)and retinal nerve fiber layer(RNFL)over time.We review the characteristic clinical presentations of hereditary,metabolic and toxic optic neuropathies,with an emphasis on OCT findings.
基金supported by grants from the Guangdong Basic and Applied Basic Research Foundation(2023A1515011250).
文摘Dominant optic atrophy(DOA)is an inherited optic neuropathy and more than 75%of DOA patients harbor pathogenic mutations in OPA1.We reported a 39-year-old female harboring c.2119G>T mutation of OPA1 and manifested progressive visual impairment after hydroxychloroquine(HCQ)therapy.The patient’s visual impairment remained stable for 10 years until she began to take HCQ 13 months ago.She complained about progressively decreased vision in both eyes.Bilateral pale temporal optic disc was similar with that of 11 years ago.Optical coherence tomography showed bilateral moderate retinal nerve fiber layer thinning other than the nasal quadrant and general thinning of the inner retina in the macular.Microcystic macular edema was noted in nasal macular in both eyes.Visual field testing showed paracentral scotoma and microperimetry showed decrease sensitivity in the macular in both eyes.After the patient stopped taking HCQ,her functional tests including visual acuity,field testing and microperimetry testing was stable compared with those of 2 years ago.However,progressive inner macular and RNFL thinning was shown by OCT.OPA1 c.2119 G>T found in this patient was a mutation that had been rarely reported in previous studies.The patient has been followed up for over 10 years and her visual acuity stayed stable for decades long until she took HCQ for 13 months.Her vision decline terminated after she stopped taking HCQ.Although HCQ toxicity is highly related to the duration and daily dose,HCQ may aggravate visual impairment in certain individuals harboring OPA1 mutation.Patients with DOA should avoid using neurotoxic HCQ and other medications that may interfere mitochondrial metabolism.
文摘Background NR2F1 mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome(BBSOAS).Although~46.7%of BBSOAS patients present with epilepsy,which is always drug-resistant and associated with higher rates of behavioral and cognitive problems,the treatment and outcomes of NR2F1-related epilepsy have rarely been described.Here,we present new cases of BBSOAS-related epilepsy and summarize all previously reported cases to explore the effective treatment for this type of epilepsy.Methods We identified six new Chinese cases of BBSOAS with epilepsy.Five different de novo heterozygous NR2F1 mutations were identified in these cases,including two novel mutations c.365G>T,p.Cys122Phe and c.449G>T,p.Gly150Val.By combining the six cases and 14 previously reported cases,we analyzed the characteristics and treatment outcomes of NR2F1-related epilepsy.Results Twelve of the 20 patients(60%)had infantile epileptic spasms,while the other patients had generalized tonic/tonic-clonic,focal,myoclonic,absence,or unclassified seizures.Several anti-seizure medications,steroids,and a ketogenic diet were administered in these cases.However,seizures were controlled in only 50%of previously reported cases,while all of the six new cases became seizure-free after perampanel as an add-on treatment.The average time from the addition of perampanel to seizure control was 7.33±4.59 months(range,1–12 months).The median time to seizure freedom was 14 months(1–32 months,>19 months in 3 cases).The average dosage of perampanel needed for epilepsy control was 0.22±0.17 mg/kg per day.Conclusions In this paper,we comprehensively summarized the clinical characteristics,treatments and outcomes of NR2F1-related epilepsy for the first time.Perampanel exhibits dramatic efficacy for NR2F1-related epilepsy.This will help optimize the treatment of this type of epilepsy and provide clues for its pathogenic mechanisms.The two novel mutations expand the genotype spectrum of this disease.
文摘Prohibitin is named due to the negative regulatory role of its gene products in cell proliferation. Prohibitin gene is located at q21 of chromosome 17 in human beings and the protein is found at mitochondria, nucleus and cytoplasm. Due to its size and ring-shaped structure, prohibitin protein defines functional subcompartments in mitochondria. Its subunits, PHB1 and PHB2, suppress cell proliferation as in the protein itself Nevertheless, recent investigation suggests that prohibitin protein enhances cell proliferation as well. It has also been found to suppress cell apoptosis by reducing cytochrome C release via the avoidance of mitochondrial crista remodeling which is facilitated through type 1 optic atrophy protein (OPAl). Acting as a binding site for ubiquitin, prohibitin protein regulates protein degradation by proteasome. Examples are the degradations of sperm mitochondria in a fertilized ovum or those of an abnormal sperm.