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Fatal multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation:A case report
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作者 Xue-Xia Li Xiao-Nan Yang +1 位作者 Hu-Dan Pan Liang Liu 《World Journal of Clinical Cases》 SCIE 2024年第23期5422-5430,共9页
BACKGROUND Multiple acyl-CoA dehydrogenase deficiency(MADD)is a disease of rare autosomal recessive disorder.There are three types of MADD.Type I is a neonatalonset form with congenital anomalies.Type II is a neonatal... BACKGROUND Multiple acyl-CoA dehydrogenase deficiency(MADD)is a disease of rare autosomal recessive disorder.There are three types of MADD.Type I is a neonatalonset form with congenital anomalies.Type II is a neonatal-onset form without congenital anomalies.Type III is considered to a milder form and usually responds to riboflavin.However,late-onset form could also be fatal and not responsive to treatments.CASE SUMMARY We report a severe case of a young man with onset type III MADD induced by drugs and strenuous exercise characterized by rhabdomyolysis and liver dysfunction.Urine analysis indicated 12 out of 70 kinds of organic acids like glutaric acid-2 were detected.Serum analysis in genetic metabolic diseases revealed 24 out of 43 tested items were abnormal,revealing the elevation of several acylcarnitines and the reduction of carnitine in the patient.By next generation sequencing technology for gene sequencing related to fatty acid oxidation and carnitine cycle defects,a rare ETFDH gene variant was identified:NM_004453:4:C.1448C>T(p.Pro483 Leu).The patient was diagnosed with lateonset GAII.He was not responsive to riboflavin and progressively worsened into multiple organ failure that finally led to death.CONCLUSION Type III MADD can also be fatal and not responsive to treatments. 展开更多
关键词 Electron transfer flavoprotein dehydrogenase mutation Multiple acyl-coa dehydrogenase deficiency Multiple organ failure Case report
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Modulating effects of acyl-CoA synthetase 5-derived mitochondrial Wnt2B palmitoylation on intestinal Wnt activity 被引量:6
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作者 Christina Klaus Ursula Schneider +5 位作者 Christian Hedberg Anke K Schütz Jürgen Bernhagen Herbert Waldmann Nikolaus Gassler Elke Kaemmerer 《World Journal of Gastroenterology》 SCIE CAS 2014年第40期14855-14864,共10页
AIM: To investigate the role of acyl-CoA synthetase 5 (ACSL5) activity in Wnt signaling in intestinal surface epithelia.
关键词 acyl-coa synthetases Wnt signaling PALMITOYLATION Intestinal barrier CARCINOGENESIS
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Intestinal acyl-CoA synthetase 5: Activation of long chain fatty acids and behind 被引量:3
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作者 Christina Klaus Min Kyung Jeon +1 位作者 Elke Kaemmerer Nikolaus Gassler 《World Journal of Gastroenterology》 SCIE CAS 2013年第42期7369-7373,共5页
The intestinal mucosa is characterized by a high complexity in terms of structure and functions and allows for a controlled demarcation towards the gut lumen.On the one hand it is responsible for pulping and selective... The intestinal mucosa is characterized by a high complexity in terms of structure and functions and allows for a controlled demarcation towards the gut lumen.On the one hand it is responsible for pulping and selective absorption of alimentary substances ensuring the immunological tolerance,on the other hand it prevents the penetration of micro-organisms as well as bacterial outgrowth.The continuous regeneration of surface epithelia along the crypt-villus-axis in the small intestine is crucial to assuring these various functions.The core phenomena of intestinal epithelia regeneration comprise cell proliferation,migration,differentiation,and apoptosis.These partly contrarily oriented processes are molecularly balanced through numerous interacting signaling pathways like Wnt/β-catenin,Notch and Hedgehog,and regulated by various modifying factors.One of these modifiers is acyl-CoA synthetase 5(ACSL5).It plays a key role in de novo lipid synthesis,fatty acid degradation and membrane modifications,and regulates several intestinal processes,primarily through different variants of protein lipidation,e.g.,palmitoylation.ACSL5 was shown to interact with proapoptotic molecules,and besides seems to inhibit proliferation along the crypt-villus-axis.Because of its proapoptotic and antiproliferative characteristics it could be of significant relevance for intestinal homeostasis,cellular disorder and tumor development. 展开更多
关键词 acyl-coa SYNTHETASE Apoptosis CARCINOGENESIS COLORECTAL cancer INTESTINAL HOMEOSTASIS
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Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report 被引量:3
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作者 Xue-Qi Pan Xue-Li Chang +4 位作者 Wei Zhang Hua-Xing Meng Jing Zhang Jia-Ying Shi Jun-Hong Guo 《World Journal of Clinical Cases》 SCIE 2020年第5期995-1001,共7页
BACKGROUND Multiple acyl-CoA dehydrogenase deficiency(MADD)is an uncommon autosomal recessive disorder of mitochondrial fatty acid beta-oxidation.Syncope is a transient loss of consciousness due to acute global cerebr... BACKGROUND Multiple acyl-CoA dehydrogenase deficiency(MADD)is an uncommon autosomal recessive disorder of mitochondrial fatty acid beta-oxidation.Syncope is a transient loss of consciousness due to acute global cerebral hypoperfusion.Late-onset MADD with syncope has not been reported previously.CASE SUMMARY We report a 17-year-old girl with exercise intolerance and muscle weakness.She felt palpitation and shortness of breath after short bouts of exercise.She also suffered from a transient loss of consciousness many times.Muscle biopsy showed lipid storage.Genetic mutation analysis indicated a compound heterozygous mutation c.250G>A(p.A84T)and c.872T>G(p.V291G)in the ETFDH gene.The results of Holter electrocardiogram monitoring showed supraventricular tachycardia when the patient experienced a loss of consciousness.After treatment with riboflavin and carnitine,muscle weakness and palpitation symptoms improved rapidly.No loss of consciousness occurred,and the Holter electrocardiogram monitoring was normal.CONCLUSION Late-onset MADD with supraventricular tachycardia can cause cardiac syncope.Carnitine and riboflavin supplement were beneficial for treating the late-onset MADD with cardiac syncope.Attention should be paid to the prevention of cardiac syncope when diagnosing late-onset MADD. 展开更多
关键词 Late-onset multiple acyl-coa dehydrogenase deficiency ETFDH Cardiac syncope Supraventricular tachycardia MITOCHONDRION CARNITINE Case report
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Polymorphism of rs1044925 in the acyl-CoA:cholesterol acyltransferase-1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations 被引量:5
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作者 WU Dong-feng,YIN Rui-xing,ZENG Huan-yu,HU Xi-jiang, CAO Xiao-li,MIAO Lin,LI Qing,YAN Ting-ting,WU Jin-zhen, PAN Shang-ling (Department of Cardiology,Institute of Cardiovascular Diseases, The First Affiliated Hospital,Guangxi Medical University, Nanning 530021,China) 《岭南心血管病杂志》 2011年第S1期161-162,共2页
Background The association of rs1044925 polymorphism in the acyl- CoA:cholesterol acyltransferase-1(ACAT-1) gene and serum lipid profiles is not well known in different ethnic groups.Bai Ku Yao is a special subgroup o... Background The association of rs1044925 polymorphism in the acyl- CoA:cholesterol acyltransferase-1(ACAT-1) gene and serum lipid profiles is not well known in different ethnic groups.Bai Ku Yao is a special subgroup of the Yao minority in China.The present study was carried out to clarify the association of rs1044925 polymorphism in the ACAT-1 gene and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 626 subjects of Bai Ku Yao and 624 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of rs 1044925 polymorphism in the ACAT-1 gene was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing.Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol (HDL-C),apolipoprotein(Apo) AI and ApoB were lower in Bai Ku Yao than in Han(P【0.01 for all).The frequency of A and C alleles was 79.0%and 21.0%in Bai Ku Yao,and 87.3%and 12.7%in Han(P【0.001);respectively.The frequency of AA,AC and CC genotypes was 63.2%,31.4% and 5.2%in Bai Ku Yao,and 75.6%,23.2%and 1.1%in Han(P【0.001);respectively.The levels of TC,LDL-C and ApoB in Bai Ku Yao but not in Han were different between the AA and AC/CC genotypes in females but not in males (P【0.05 for all).The C allele carriers had lower serum TC, LDL-C and ApoB levels as compared with the C allele non-carriers. The levels of TC,LDL-C and ApoB in Bai Ku Yao but not in Han were correlated with genotypes in females but not in males(P【0.05 for all).Serum lipid parameters were also correlated with sex,age,body massindex,alcohol consumption, cigarette smoking,and blood pressure in both ethnic groups(P【0.05-0.001).Conclusions These results suggest that the polymorphism of rs1044925 associated with female serum TC,LDL-C and ApoB levels in the Bai Ku Yao population.The C allele carriers had more favorable serum TC,LDL-C and ApoB levels than the C allele noncarriers. in the ACAT-1 gene is 展开更多
关键词 Polymorphism of rs1044925 in the acyl-coa APOB GENE
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Fatty acid metabolism and acyl-CoA synthetases in the liver-gut axis 被引量:2
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作者 Yunxia Ma Miljana Nenkov +3 位作者 Yuan Chen Adrian T Press Elke Kaemmerer Nikolaus Gassler 《World Journal of Hepatology》 2021年第11期1512-1533,共22页
Fatty acids are energy substrates and cell components which participate in regulating signal transduction,transcription factor activity and secretion of bioactive lipid mediators.The acyl-CoA synthetases(ACSs)family c... Fatty acids are energy substrates and cell components which participate in regulating signal transduction,transcription factor activity and secretion of bioactive lipid mediators.The acyl-CoA synthetases(ACSs)family containing 26 family members exhibits tissue-specific distribution,distinct fatty acid substrate preferences and diverse biological functions.Increasing evidence indicates that dysregulation of fatty acid metabolism in the liver-gut axis,designated as the bidirectional relationship between the gut,microbiome and liver,is closely associated with a range of human diseases including metabolic disorders,inflammatory disease and carcinoma in the gastrointestinal tract and liver.In this review,we depict the role of ACSs in fatty acid metabolism,possible molecular mechanisms through which they exert functions,and their involvement in hepatocellular and colorectal carcinoma,with particular attention paid to long-chain fatty acids and small-chain fatty acids.Additionally,the liver-gut communication and the liver and gut intersection with the microbiome as well as diseases related to microbiota imbalance in the liver-gut axis are addressed.Moreover,the development of potentially therapeutic small molecules,proteins and compounds targeting ACSs in cancer treatment is summarized. 展开更多
关键词 Long-chain fatty acids Short-chain fatty acids acyl-coa synthetases MICROBIOTA Liver-gut axis
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Human intestinal acyl-CoA synthetase 5 is sensitive to the inhibitor triacsin C 被引量:3
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作者 Elke Kaemmerer Anne Peuscher +4 位作者 Andrea Reinartz Christian Liedtke Ralf Weiskirchen Jürgen Kopitz Nikolaus Gassler 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第44期4883-4889,共7页
AIM:To investigate whether human acyl-CoA synthetase 5(ACSL5) is sensitive to the ACSL inhibitor triacsin C.METHODS:The ACSL isoforms ACSL1 and ACSL5 from rat as well as human ACSL5 were cloned and recombinantly expre... AIM:To investigate whether human acyl-CoA synthetase 5(ACSL5) is sensitive to the ACSL inhibitor triacsin C.METHODS:The ACSL isoforms ACSL1 and ACSL5 from rat as well as human ACSL5 were cloned and recombinantly expressed as 6xHis-tagged enzymes.Ni 2+-affinity purified recombinant enzymes were assayed at pH 7.5 or pH 9.5 in the presence or absence of triacsin C.In addition,ACSL5 transfected CaCo2 cells and intestinal human mucosa were monitored.ACSL5 expression in cellular systems was verified using Western blot and immunofluorescence.The ACSL assay mix included TrisHCl(pH 7.4),ATP,CoA,EDTA,DTT,MgCl 2,[9,103 H] palmitic acid,and triton X-100.The 200 μL reaction was initiated with the addition of solubilized,purified recombinant proteins or cellular lysates.Reactions were terminated after 10,30 or 60 min of incubation with Doles medium.RESULTS:Expression of soluble recombinant ACSL proteins was found after incubation with isopropyl betaD-1-thiogalactopyranoside and after ultracentrifugation these were further purified to near homogeneity with Ni 2+-affinity chromatography.Triacsin C selectively and strongly inhibited recombinant human ACSL5 protein at pH 7.5 and pH 9.5,as well as recombinant rat ACSL1(sensitive control),but not recombinant rat ACSL5(insensitive control).The IC50 for human ACSL5 was about 10 μmol/L.The inhibitory triacsin C effect was similar for different incubation times(10,30 and 60 min) and was not modified by the N-or C-terminal location of the 6xHis-tag.In order to evaluate ACSL5 sensitivity to triacsin C in a cellular environment,stable human ACSL5 CaCo2 transfectants and mechanically dissected normal human intestinal mucosa with high physiological expression of ACSL5 were analyzed.In both models,ACSL5 peak activity was found at pH 7.5 and pH 9.5,corresponding to the properties of recombinant human ACSL5 protein.In the presence of triacsin C(25 μmol/L),total ACSL activity was dramatically diminished in human ACSL5 transfectants as well as in ACSL5-rich human intestinal mucosa.CONCLUSION:The data strongly indicate that human ACSL5 is sensitive to triacsin C and does not compensate for other triacsin C-sensitive ACSL isoforms. 展开更多
关键词 acyl-coa synthetase 5 Fatty acid metabolism Mitochondria Triacsin C
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Modulation of peroxisomes abundance by argan oil and lipopolysaccharides in acyl-CoA oxidase 1-deficient fibroblasts
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作者 Riad El Kebbaj Soufiane El Kamouni +8 位作者 Hammam I.El Hajj Pierre Andreoletti Joseph Gresti Norbert Latruffe M’Hammed Said El Kebbaj Joseph Vamecq Gerard Lizard Boubker Nasser Mustapha Cherkaoui-Malki 《Health》 2013年第1期62-69,共8页
Pseudo-neonatal adrenoleukodystrophy (P-NALD) is a neurodegenerative disorder caused by acyl-CoA oxidase 1 (ACOX1) deficiency with subsequent impairment of peroxisomal fatty acid β-oxidation, accumulation of very lon... Pseudo-neonatal adrenoleukodystrophy (P-NALD) is a neurodegenerative disorder caused by acyl-CoA oxidase 1 (ACOX1) deficiency with subsequent impairment of peroxisomal fatty acid β-oxidation, accumulation of very long chain fatty acids (VLCFAs) and strong reduction in peroxisome abundance. Increase in peroxisome number has been previously suggested to improve peroxisomal disorders, and in this perspective, the present work was aimed at exploring whether modulation of peroxisomes abundance could be achieved in P-NALD fibroblasts. Here we showed that treatment with the natural Argan oil induced peroxisome proliferation in P-NALD fibroblasts. This induction was independent on activations of both nuclear receptor PPARα and its coactivator PGC-1α. Lipopolysaccharides (LPS) treatment, which caused inflammation, induced also a peroxisome proliferation that, in contrast, was dependent on activations of PPARα and PGC-1α. By its ability to induce peroxisome proliferation, Argan oil is suggested to be of potential therapeutic use in patients with P-NALD. 展开更多
关键词 acyl-coa Oxidase 1 Argan Oil LPS PGC-1a Peroxisome Proliferation P-NALD PPARa
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Metformin alleviates spinal cord injury by inhibiting nerve cell ferroptosis through upregulation of heme oxygenase-1 expression
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作者 Zhihua Wang Wu Zhou +2 位作者 Zhixiong Zhang Lulu Zhang Meihua Li 《Neural Regeneration Research》 SCIE CAS CSCD 2024年第9期2041-2049,共9页
Previous studies have reported upregulation of heme oxygenase-1 in different central nervous system injury models.Heme oxygenase-1 plays a critical anti-inflammatory role and is essential for regulating cellular redox... Previous studies have reported upregulation of heme oxygenase-1 in different central nervous system injury models.Heme oxygenase-1 plays a critical anti-inflammatory role and is essential for regulating cellular redox homeostasis.Metformin is a classic drug used to treat type 2 diabetes that can inhibit ferroptosis.Previous studies have shown that,when used to treat cardiovascular and digestive system diseases,metformin can also upregulate heme oxygenase-1 expression.Therefore,we hypothesized that heme oxygenase-1 plays a significant role in mediating the beneficial effects of metformin on neuronal ferroptosis after spinal cord injury.To test this,we first performed a bioinformatics analysis based on the GEO database and found that heme oxygenase-1 was upregulated in the lesion of rats with spinal cord injury.Next,we confirmed this finding in a rat model of T9 spinal cord compression injury that exhibited spinal cord nerve cell ferroptosis.Continuous intraperitoneal injection of metformin for 14 days was found to both upregulate heme oxygenase-1 expression and reduce neuronal ferroptosis in rats with spinal cord injury.Subsequently,we used a lentivirus vector to knock down heme oxygenase-1 expression in the spinal cord,and found that this significantly reduced the effect of metformin on ferroptosis after spinal cord injury.Taken together,these findings suggest that metformin inhibits neuronal ferroptosis after spinal cord injury,and that this effect is partially dependent on upregulation of heme oxygenase-1. 展开更多
关键词 acyl-coa synthetase long-chain family member 4 ferroptosis glutathione peroxidase 4 heme oxygenase-1 inflammation iron lipid peroxidation METFORMIN NEUROPROTECTION spinal cord injury
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代谢工程改造酿酒酵母高效合成游离脂肪酸
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作者 朱满志 陈献忠 +2 位作者 沈微 杨海泉 夏媛媛 《食品与发酵工业》 CAS CSCD 北大核心 2024年第2期15-22,共8页
该文以酿酒酵母BY4741作为底盘细胞,通过系统代谢工程改造提高游离脂肪酸(free fatty acid,FFAs)的合成。首先,通过删除酰基CoA合成酶FAA1、FAA4以及FAT1的编码基因,提高FFAs的合成,酵母工程菌株FFAs达到384.4 mg/L。进一步,通过敲除PO... 该文以酿酒酵母BY4741作为底盘细胞,通过系统代谢工程改造提高游离脂肪酸(free fatty acid,FFAs)的合成。首先,通过删除酰基CoA合成酶FAA1、FAA4以及FAT1的编码基因,提高FFAs的合成,酵母工程菌株FFAs达到384.4 mg/L。进一步,通过敲除POX 1、FAA 2和PXA 2基因,破坏了酵母细胞的β-氧化途径,使细胞外FFAs进一步提高,达到了394.9 mg/L。随后,通过敲除磷脂酸磷酸酶编码基因DPP 1,LPP 1,PAH 1,降低了磷脂酸(phosphatidic acid,PA)的去磷酸化水平,上调了获得的多基因缺失的酵母工程菌(Δfaa 1Δfaa4Δfat1Δpox1Δfaa2Δpxa2Δdpp1Δlpp1Δpah1)能够产生497.3 mg/L的细胞外游离脂肪酸,以及1332.2 mg/L的总脂肪酸。通过组合代谢工程产生的平台菌株,为未来发展脂质相关的细胞工厂提供了基础。 展开更多
关键词 游离脂肪酸 β氧化 酿酒酵母 磷脂酸 酰基CoA
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补中益气汤加减治疗气血亏虚型腰椎间盘突出症疗效及对患者疼痛程度的影响研究
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作者 李忠泽 李嘉玮 +5 位作者 白春晓 覃昌龙 张超 董若愚 陈劲松 陈江 《陕西中医》 CAS 2024年第10期1340-1344,共5页
目的:探讨补中益气汤加减治疗气血亏虚型腰椎间盘突出症疗效及对患者疼痛程度评分、Oswestry功能障碍指数问卷表(ODI)评分及血清人谷胱甘肽过氧化酶4(GPX4)、长链脂酰辅酶A合成酶4(ACSL4)水平的影响。方法:选取80例气血亏虚型腰椎间盘... 目的:探讨补中益气汤加减治疗气血亏虚型腰椎间盘突出症疗效及对患者疼痛程度评分、Oswestry功能障碍指数问卷表(ODI)评分及血清人谷胱甘肽过氧化酶4(GPX4)、长链脂酰辅酶A合成酶4(ACSL4)水平的影响。方法:选取80例气血亏虚型腰椎间盘突出症患者,采用随机数字表法将患者分为补中益气组和对照组,每组40例,对照组采用常规西药治疗,补中益气组在对照组基础上采用补中益气汤加减治疗,两组均持续治疗8周。比较两组临床疗效、治疗前后中医证候评分、疼痛程度、ODI评分和血清GPX4、ACSL4水平变化以及两组治疗期间的不良反应发生情况。结果:补中益气组治疗总有效率为97.50%,对照组治疗总有效率为80.00%,差异有统计学意义(P<0.05)。治疗后,补中益气组的中医证候积分均较对照组低,Oswestry功能障碍指数(ODI)和视觉模拟评分(VAS)均较对照组低,两组GPX4水平较治疗前升高,ACSL4水平较治疗前降低,补中益气组血清GPX4水平较对照组高,ACSL4水平较对照组低,差异均有统计学意义(P<0.05)。补中益气组患者不良反应发生率为2.50%,对照组为5.00%,差异无统计学意义(P>0.05)。结论:补中益气汤加减治疗气血亏虚型腰椎间盘突出症具有较好效果,可以显著降低患者疼痛程度、改善腰椎功能障碍,降低患者体内炎症水平,并能在一定程度上延缓椎间盘内铁死亡进程。 展开更多
关键词 腰椎间盘突出症 气血亏虚型 补中益气汤 疼痛程度 血清人谷胱甘肽过氧化酶4 长链脂酰辅酶A合成酶4 铁死亡
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基于铁死亡探讨乌司他丁对肝缺血-再灌注损伤的保护作用
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作者 陈实 赵漾 +3 位作者 周尧 郁冬玲 黄娇 蓝雨雁 《器官移植》 CAS CSCD 北大核心 2024年第5期780-788,共9页
目的探讨乌司他丁对肝缺血-再灌注损伤的保护作用及机制。方法24只雄性SD大鼠分成3组,分别为假手术组(Sham组)、肝缺血-再灌注损伤组(HIRI组)、肝缺血-再灌注损伤+乌司他丁预处理组(HIRI+UTI组),每组8只。采用阻断肝门静脉和肝动脉1 h... 目的探讨乌司他丁对肝缺血-再灌注损伤的保护作用及机制。方法24只雄性SD大鼠分成3组,分别为假手术组(Sham组)、肝缺血-再灌注损伤组(HIRI组)、肝缺血-再灌注损伤+乌司他丁预处理组(HIRI+UTI组),每组8只。采用阻断肝门静脉和肝动脉1 h的方法建立大鼠HIRI模型,HIRI+UTI组于造模前30 min腹腔注射乌司他丁,Sham组和HIRI组腹腔注射等量的生理盐水。造模6 h后处死大鼠,收集大鼠血清检测丙氨酸转氨酶(ALT)和天冬氨酸转氨酶(AST)水平;采用苏木素-伊红(HE)染色法检测肝组织病理学改变;透射电镜观察肝组织线粒体超微结构改变;免疫荧光检测谷胱甘肽过氧化酶4(GPX4)表达;检测肝组织丙二醛(MDA)、谷胱甘肽(GSH)、铁、活性氧簇(ROS)及GPX4含量;检测肝组织GPX4、酰基辅酶A合成酶长链家族4(ACSL4)信使RNA(mRNA)和蛋白表达水平。结果与Sham组相比,HIRI组血清ALT、AST水平升高,肝脏出现淤血、肝细胞坏死和肝小叶结构异常等病理改变,病理学评分升高,线粒体缩小,膜密度增加,线粒体嵴断裂甚至消失,ROS、MDA、铁含量升高,GSH含量下降,GPX4荧光强度减弱,ACSL4 mRNA及蛋白相对表达量升高,GPX4 mRNA和蛋白相对表达量降低(均为P<0.05)。与HIRI组比较,HIRI+UTI组血清ALT、AST水平降低,肝组织损伤减轻,病理学评分降低,线粒体缩小、嵴断裂情况改善,ROS、MDA、铁含量降低,GSH含量升高,GPX4荧光强度增强,ACSL4 mRNA和蛋白相对表达量降低,GPX4 mRNA和蛋白相对表达量升高(均为P<0.05)。结论乌司他丁可减轻大鼠肝缺血-再灌注损伤,其机制可能是通过抑制铁死亡。 展开更多
关键词 缺血-再灌注损伤 肝移植 乌司他丁 铁死亡 谷胱甘肽过氧化酶4 酰基辅酶A合成酶长链家族4 活性氧簇 丙二醛
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Clinical and muscle magnetic resonance image findings in patients with late-onset multiple acyl-CoA dehydrogenase deficiency 被引量:11
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作者 Dao-Jun Hong Min Zhu +4 位作者 Zi-Juan Zhu Lu Cong Shan-Shan Zhong Ling Liu Jun Zhang 《Chinese Medical Journal》 SCIE CAS CSCD 2019年第3期275-284,共10页
Background:Late-onset multiple acyl-coA dehydrogenase deficiency (MADD) is an autosomal recessive inherited metabolic disorder. It is still unclear about the muscle magnetic resonance image (MRI) pattern of the distal... Background:Late-onset multiple acyl-coA dehydrogenase deficiency (MADD) is an autosomal recessive inherited metabolic disorder. It is still unclear about the muscle magnetic resonance image (MRI) pattern of the distal lower limb pre- and post-treatment in patients with late-onset MADD. This study described the clinical and genetic findings in a cohort of patients with late-onset MADD, and aimed to characterize the MRI pattern of the lower limbs.Methods:Clinical data were retrospectively collected from clinic centers of Peking University People's Hospital between February 2014 and February 2018. Muscle biopsy, blood acylcarnitines, and urine organic acids profiles, and genetic analysis were conducted to establish the diagnosis of MADD in 25 patients. Muscle MRI of the thigh and leg were performed in all patients before treatment. Eight patients received MRI re-examinations after treatment.Results:All patients presented with muscle weakness or exercise intolerance associated with variants in the electron transfer flavoprotein dehydrogenase gene. Muscle MRI showed a sign of both edema-like change and fat infiltration selectively involving in the soleus (SO) but sparing of the gastrocnemius (GA) in the leg. Similar sign of selective involvement of the biceps femoris longus (BFL) but sparing of the semitendinosus (ST) was observed in the thigh. The sensitivity and specificity of the combination of either "SO+/GA-" sign or "BFL+/ST-" sign for the diagnosis of late-onset MADD were 80.0% and 83.5%, respectively. Logistic regression model supported the findings. The edema-like change in the SO and BFL muscles were quickly recovered at 1 month after treatment, and the clinical symptom was also relieved.Conclusions:This study expands the clinical and genetic spectrums of late-onset MADD. Muscle MRI shows a distinct pattern in the lower limb of patients with late-onset MADD. The dynamic change of edema-like change in the affected muscles might be a potential biomarker of treatment response. 展开更多
关键词 MULTIPLE acyl-coa DEHYDROGENASE DEFICIENCY Electron transfer FLAVOPROTEIN DEHYDROGENASE MUSCLE magnetic resonance imaging MUSCLE edema-like change
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Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency 被引量:8
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作者 Rui-Nan Zhang Yi-Fan Li +5 位作者 Wen-Juan Qiu Jun Ye Lian-Shu Han Hui-Wen Zhang Na Lin Xue-Fan Gu 《World Journal of Pediatrics》 SCIE 2014年第2期119-125,共7页
Background:Very long chain acyl-CoA dehydrogenase deficiency(VLCADD)is an inherited metabolic disease caused by deleterious mutations in the ACADVL gene that encodes very long chain acyl-CoA dehydrogenase(VLCAD),and w... Background:Very long chain acyl-CoA dehydrogenase deficiency(VLCADD)is an inherited metabolic disease caused by deleterious mutations in the ACADVL gene that encodes very long chain acyl-CoA dehydrogenase(VLCAD),and which can present as cardiomyopathy in neonates,as hypoketotic hypoglycemia in infancy,and as myopathy in late-onset patients.Although many ACADVL mutations have been described,no prevalent mutations in the ACADVL gene have been associated with VLCADD.Herein,we report the clinical course of the disease and explore the genetic mutation spectrum in seven Chinese patients with VLCADD.Methods:Seven Chinese patients,from newborn to 17 years old,were included in this study.Tandem mass spectrometry was performed to screen for VLCAD defi ciency.All exons and fl anking introns of the ACADVL gene were analyzed using polymerase chain reaction and direct sequencing.Online analysis tools were used to predict the impact of novel mutations.Results:All cases had elevated serum levels of tetradecanoylcarnitine(C14:1)which is the characteristic biomarker for VLCADD.The phenotype of VLCADD is heterogeneous.Two patients were hospitalized for hypoactivity and hypoglycemia shortly after birth.Three patients showed hepatomegaly and hypoglycemia in infancy.The other two adolescent patients showed initial manifestations of exercise intolerance or rhabdomyolysis.Three of the patients died at the age of 6-8 months.Eleven different mutations in the ACADVL gene in the 7 patients were identified,including seven reported mutations(p.S22X,p.W427X,p.A213T,p.G222R,p.R450H,c.296-297delCA,c.1605+1G>T)and four novel mutations(p.S72F,p.Q100X,p.M437T,p.D466Y).The p.R450H and p.D466Y(14.28%,2/14 alleles)mutations were identifi ed in two alleles respectively.Conclusions:The clinical manifestations were heterogeneous and ACADVL gene mutations were heterozygous in the seven VLCADD Chinese patients.R450H may be a relatively common mutation in Asian populations.The genotype and phenotype had a certain correlation in our patients. 展开更多
关键词 FOLLOW-UP mutation very long chain acyl-coa dehydrogenase VLCAD deficiency treatment
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利用TCGA和GEPIA2公共数据库分析ACSM3与卵巢癌预后的关系
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作者 侯娟 滕长财 王涛 《右江医学》 2024年第2期133-138,共6页
目的 研究肿瘤基因图谱(TCGA)数据库中酰基辅酶A合成酶中链家族成员3(ACSM3)在357例卵巢癌患者中的表达量及其与患者生存状况的关系。方法 对TCGA数据库中357例卵巢癌患者的ACSM3表达量及其与生存情况的关系进行分析,寻找其共表达基因... 目的 研究肿瘤基因图谱(TCGA)数据库中酰基辅酶A合成酶中链家族成员3(ACSM3)在357例卵巢癌患者中的表达量及其与患者生存状况的关系。方法 对TCGA数据库中357例卵巢癌患者的ACSM3表达量及其与生存情况的关系进行分析,寻找其共表达基因并进行基因本体(GO)富集分析和京都基因与基因组百科全书(KEGG)富集分析。结果 多因素Cox回归分析进一步表明,ACSM3是卵巢癌患者预后的影响因素,其共表达基因富集分析结果与炎症应答和肿瘤中基因异常转录相关。结论 ACSM3的表达对卵巢癌患者的预后具有重要的意义,高表达预后较好。ACSM3可以成为指导临床医师评估卵巢癌患者预后的重要指标。 展开更多
关键词 酰基辅酶A合成酶中链家族成员3 肿瘤基因图谱 预后 卵巢癌
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大豆GmACBP6基因克隆及萌发期耐盐碱功能验证
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作者 吴管吉 周勋峻 +5 位作者 吴菲菲 张引鹤 黄颖华 李雅忻 高红桃 李海燕 《热带生物学报》 2024年第4期382-390,共9页
为了明确大豆(Glycine max)酰基辅酶A结合蛋白(GmACBP6)是否具有耐盐碱功能,本研究首先利用荧光定量PCR方法对大豆GmACBP6萌发期盐碱胁迫下的表达量进行分析,明确GmACBP6在大豆萌发期对盐碱胁迫具有响应。在此基础上,构建pYES2-GmACBP6... 为了明确大豆(Glycine max)酰基辅酶A结合蛋白(GmACBP6)是否具有耐盐碱功能,本研究首先利用荧光定量PCR方法对大豆GmACBP6萌发期盐碱胁迫下的表达量进行分析,明确GmACBP6在大豆萌发期对盐碱胁迫具有响应。在此基础上,构建pYES2-GmACBP6重组载体并转化酵母菌株,观察转pYES2-GmACBP6酵母菌株及转pYES2酵母菌株在盐及盐碱胁迫培养基中的生长情况,结果表明,转入pYES2-GmACBP6酵母菌株在盐及盐碱胁迫长势明显优于转pYES2空载体的酵母菌株,初步确定大豆GmACBP6基因具有提高酵母细胞盐碱耐受性的功能。同时,本研究通过创制GmACBP6回补及超表达拟南芥(Arabidopsis thaliana)材料,并对其萌发期耐盐碱表型进行鉴定,结果表明,在盐及盐碱胁迫下GmACBP6超表达拟南芥种子的萌发率显著高于GmACBP6回补材料、atacbp6突变体及野生型拟南芥,进一步确定了大豆GmACBP6基因具有耐盐碱功能。 展开更多
关键词 大豆 酰基辅酶A结合蛋白GmACBP6 耐盐碱性
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Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency 被引量:1
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作者 Ting CHEN Fan TONG +8 位作者 Xiao-yu WU Ling ZHU Qiu-zi YI Jing ZHENG Ru-lai YANG Zheng-yan ZHAO Xiao-hui CANG Qiang SHU Ping-ping JlANG 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2020年第11期885-896,共12页
The pathogenesis of very-long-chain acyl-CoA dehydrogenase(VLCAD)deficiency is highly heterogeneous and still unclear.Additional novel variants have been recently detected in the population.The molecular and cellular ... The pathogenesis of very-long-chain acyl-CoA dehydrogenase(VLCAD)deficiency is highly heterogeneous and still unclear.Additional novel variants have been recently detected in the population.The molecular and cellular effects of these previously unreported variants are still poorly understood and require further characterization.To address this problem,we have evaluated the various functions and biochemical consequences of six novel missense variants that lead to mild VLCAD deficiency.Marked deficiencies in fatty acid oxidation(FAO)and other mitochondrial defects were observed in cells carrying one of these six variants(c.541 C>T,c.863 T>G,c.895 A>G,c.1238 T>C,c.1276 G>A,and c.1505 T>A),including reductions in mitochondrial respiratory-chain function and adenosine teriphosphate(ATP)production,and increased levels of mitochondrial reactive oxygen species(ROS).Intriguingly,higher apoptosis levels were found in cells carrying the mutant VLCAD under glucose-limited stress.Moreover,the stability of the mutant homodimer was disturbed,and major conformational changes in each mutant VLCAD structure were predicted by molecular dynamics(MD)simulation.The data presented here may provide valuable information for improving management of diagnosis and treatment of VLCAD deficiency and for a better understanding of the general molecular bases of disease variability. 展开更多
关键词 Mitochondrial dysfunction Very-long-chain acyl-coa dehydrogenase(VLCAD) β-Oxidation Molecular dynamics(MD)simulation
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长链酯酰辅酶A合成酶4介导铁死亡的发生机制
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作者 付红玉 李玥 +4 位作者 崔晗 李玖芝 许琬雪 王曦 樊瑞锋 《畜牧兽医学报》 CAS CSCD 北大核心 2024年第9期3792-3801,共10页
铁死亡(ferroptosis)是一种铁和脂质过氧化依赖性的程序性死亡方式,触发铁死亡的必要条件是细胞内活性氧物质堆积到致死量。由脂质过氧化反应产生的脂质活性氧会作用于细胞膜上的脂质分子,导致脂质过氧化和膜损伤,因此脂质过氧化是铁死... 铁死亡(ferroptosis)是一种铁和脂质过氧化依赖性的程序性死亡方式,触发铁死亡的必要条件是细胞内活性氧物质堆积到致死量。由脂质过氧化反应产生的脂质活性氧会作用于细胞膜上的脂质分子,导致脂质过氧化和膜损伤,因此脂质过氧化是铁死亡的显著特征。长链酯酰辅酶A合成酶4(long-chain acyl-CoA synthetase 4,ACSL4)在调节脂质代谢方面具有关键作用,其主要功能是将多不饱和脂肪酸酯化并插入膜磷脂中,从而加速脂质过氧化的发生并推动铁死亡。ACSL4介导的铁死亡主要受到转录、转录后和翻译后水平上的调控影响,在脂质过氧化依赖性的疾病中发挥着重要作用。本文旨在介绍铁死亡的发生机制,重点阐述了ACSL4受到的上游调控从而介导铁死亡的机制,为研究ACSL4介导铁死亡机制提供理论依据。 展开更多
关键词 ACSL4 铁死亡 脂质过氧化 上游调控机制
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硫唑嘌呤对RSL3诱导小鼠精母细胞铁死亡的影响
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作者 叶严珏 汤子怡 +3 位作者 谭钰培 阳诗盈 刘永 尹俐 《吉林大学学报(医学版)》 CAS CSCD 北大核心 2024年第5期1217-1226,共10页
目的:探讨硫唑嘌呤(AZA)对还原型谷胱甘肽(GSH)过氧化物酶4抑制剂RSL3诱导的小鼠精母细胞铁死亡的影响,并阐明其可能的作用机制。方法:小鼠精母GC-2细胞随机分为对照组(不进行处理)、RSL3组(给予10 nmol·L^(-1) RSL3处理24 h)、RS... 目的:探讨硫唑嘌呤(AZA)对还原型谷胱甘肽(GSH)过氧化物酶4抑制剂RSL3诱导的小鼠精母细胞铁死亡的影响,并阐明其可能的作用机制。方法:小鼠精母GC-2细胞随机分为对照组(不进行处理)、RSL3组(给予10 nmol·L^(-1) RSL3处理24 h)、RSL3+铁死亡抑制剂(Fer-1)组(给予10 nmol·L^(-1) RSL3处理24 h+2μmol·L^(-1) Fer-1处理12 h)、RSL3+低剂量AZA组(给予10 nmol·L^(-1)RSL3处理24h+5μmol·L^(-1)AZA处理12h)、 RSL3+中剂量AZA组(给予10 nmol·L^(-1) RSL3处理24 h+10μmol·L^(-1) AZA处理12 h)和RSL3+高剂量AZA组(给予10 nmol·L^(-1) RSL3处理24 h+20μmol·L^(-1) AZA处理12 h)。MTT法检测不同浓度AZA和不同浓度RSL3作用后GC-2细胞活性,采用GSH和氧化型谷胱甘肽(GSSG)检测试剂盒检测GC-2细胞中GSH和GSSG水平,采用丙二醛(MDA)试剂盒检测各组GC-2细胞中MDA水平,采用Western blotting法检测各组GC-2细胞中长链脂酰CoA合成酶4 (ACSL4)、血红素氧合酶1 (HO-1)和谷胱甘肽过氧化物酶4 (GPX4)蛋白表达水平,采用免疫荧光法检测各组GC-2细胞中ACSL4蛋白表达情况。结果:与对照组比较,5、10和20μmol·L^(-1)AZA组GC-2细胞活性差异无统计学意义(P>0.05),30和40μmol·L^(-1) AZA组GC-2细胞细胞活力明显降低(P<0.01),因此AZA作用浓度选择为20μmol·L^(-1)以内。与对照组比较,1、5和10 nmol·L^(-1) RSL3组GC-2细胞活性差异无统计学意义(P>0.05),50、100、500和1 000 nmol·L^(-1)RSL3组GC-2细胞活性明显降低(P<0.05或P<0.01),因此将RSL3作用浓度定为10 nmol·L^(-1)以内。GSH和MDA试剂盒检测,与对照组比较,RSL3组GC-2细胞中GSSG和MDA水平明显升高(P<0.05), GSH水平明显降低(P<0.05);与RSL3组比较,RSL3+Fer-1组和RSL3+AZA组GC-2细胞中GSSG和MDA水平明显降低(P<0.01), GSH水平明显升高(P<0.01)。Western blotting法检测,与对照组比较,RSL3组GC-2细胞中ACSL4和HO-1蛋白表达水平明显升高(P<0.05),GPX4蛋白表达水平明显降低(P<0.01);与RSL3组比较,RSL3+Fer-1组和RSL3+AZA组GC-2细胞中GPX4蛋白表达水平明显升高(P<0.05),ACSL4和HO-1蛋白表达水平明显降低(P<0.01)。免疫荧光检测,与对照组比较,RSL3组GC-2细胞中ACSL4蛋白表达量明显增多;与RSL3组比较,RSL3+Fer-1组和RSL3+AZA组ACSL4蛋白表达量明显降低。结论:AZA可以减轻RSL3诱导的小鼠精母细胞铁死亡。 展开更多
关键词 硫唑嘌呤 铁死亡 精母细胞 谷胱甘肽过氧化物酶4 酯酰辅酶A合成酶长链家族成员4
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结直肠癌组织中ACOX1、DUSP14蛋白表达变化及临床意义
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作者 郭焱 丁媛媛 贾静 《山东医药》 CAS 2024年第19期6-9,共4页
目的探讨结直肠癌组织中酰基辅酶A氧化酶1(ACOX1)、双特异性磷酸酶14(DUSP14)蛋白表达变化及临床意义。方法选择手术治疗的98例CRC患者,术中取癌和癌旁组织(距肿瘤边缘>2 cm)。用免疫组化染色法检测组织中ACOX1、DUSP14蛋白,用Spear... 目的探讨结直肠癌组织中酰基辅酶A氧化酶1(ACOX1)、双特异性磷酸酶14(DUSP14)蛋白表达变化及临床意义。方法选择手术治疗的98例CRC患者,术中取癌和癌旁组织(距肿瘤边缘>2 cm)。用免疫组化染色法检测组织中ACOX1、DUSP14蛋白,用Spearman秩相关分析CRC癌组织中ACOX1与DUSP14蛋白表达的相关性,以及二者表达与临床病理参数的关系;对患者进行随访,记录其生存状况,Cox回归模型分析CRC预后的影响因素。结果CRC癌组织、癌旁组织中ACOX1蛋白阳性表达率分别为24.49%(24/98)、84.69%(83/98),二者比较差异有统计学意义(P<0.05)。CRC癌组织、癌旁组织中DUSP14蛋白阳性表达率分别为79.59%(78/98)、12.24%(12/98),二者比较差异有统计学意义(P<0.05)。CRC癌组织中ACOX1与DUSP14蛋白表达呈负相关(rs=-0.792,P<0.05)。与TNM分期Ⅰ、Ⅱ期,高中分化及无淋巴结转移的CRC组织比较,TNM分期Ⅲ期、低分化程度及淋巴结转移的CRC组织中ACOX1蛋白阳性表达率低,DUSP14蛋白阳性表达率高(P均<0.05)。CRC患者随访期间死亡42例,3年总生存率为57.14%(56/98)。ACOX1蛋白表达阳性与阴性患者3年生存率分别为87.50%(21/24)、47.30%(35/74),二者比较差异有统计学意义(P<0.05);DUSP14蛋白表达阳性与阴性患者3年生存率分别为48.72%(38/78)、90.00%(18/20),二者比较差异有统计学意义(P<0.05)。ACOX1蛋白表达阴性、DUSP14蛋白表达阳性、TNM分期Ⅲ期及淋巴结转移为CRC患者预后的危险因素(P均<0.05)。结论CRC中ACOX1低表达、DUSP14高表达,二者表达变化与肿瘤发展及预后有关。 展开更多
关键词 结直肠癌 酰基辅酶A氧化酶1 双特异性磷酸酶14 临床病理参数 预后
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