BACKGROUND Variations in the methylene tetrahydrofolate reductase(MTHFR)gene have been reported as risk factors for numerous conditions,including cardiovascular disease,thrombophilia,stroke,hypertension and pregnancy-...BACKGROUND Variations in the methylene tetrahydrofolate reductase(MTHFR)gene have been reported as risk factors for numerous conditions,including cardiovascular disease,thrombophilia,stroke,hypertension and pregnancy-related complications.Moreover,it was reported there is an association between breast cancer and mutations in MTHFR-C677T.However,whether there is an association between MTHFR gene polymorphism and granulomatous lobular mastitis or not has been rarely investigated.AIM To analyze the association between MTHFR gene polymorphism and granulomatous lobular mastitis.METHODS Fifty-one patients with granulomatous lobular mastitis admitted to The First Hospital of Kunming were selected as study samples.Their hospitalization time ranged from February 2018 to February 2019.The 51 patients were included in the experimental group,and another 51 women who underwent physical examination at The First Hospital of Kunming in the same period were included in the control group.Deoxyribonucleic acid and MTFR genetic polymorphism testing were performed in each group.The association between MTHFR gene polymorphism and granulomatous lobular mastitis was observed.RESULTS There were significant differences in genotype frequency and allele frequency of C/C and C/T between the experimental group and the control group(all P<0.05).However,there was no significant difference in frequency of T/T genotype between the two groups(P>0.05).In addition,there was no significant difference in genotype frequency and allele frequency of A/A,A/C and C/C between the two groups(P>0.05).CONCLUSION MTHFR gene C677T locus polymorphism is closely related to granulomatous lobular mastitis.展开更多
The hydrolysis products of tetrahydrotblate model compound 4 were a mixture of 6 and7 and the rearrangement reaction between 6 and 7 via 5 was in a state of equilibrium. confirmed by1HNMR and IR spectra.
Objective To review the association of methylene tetrahydrofolate reductase (MTHFR) C677T mutant with coronary artery disease, as well as to highlight the results of some of these studies and to emphasize the need to ...Objective To review the association of methylene tetrahydrofolate reductase (MTHFR) C677T mutant with coronary artery disease, as well as to highlight the results of some of these studies and to emphasize the need to focus on the genetic architecture of CAD. Data SourcesData used in this article is mainly from relevant articles obtained through Pubmed, OVID and Google Scholar published from 1980 to 2008. Major studies and trials in this period were taken into account to draw accurate conclusion on the relation of those mutations in MTHFR with homocysteinemia and CAD. ResultOur analysis shows that hyperhomocysteinemia, a risk factor for occlusive arterial diseases, can be caused by disruptions of homocysteine metabolism catalyzed by MFTHR. A common alanine to valine mutation in MTHFR may contribute to mild heperhomocysteinemia in CAD. Individuals with the homozygous mutant genotype had higher plasma homocysteine, particularly when plasma folate was below the median value. ConclusionThis MTHFR mutant in the setting of insufficient folate may be a risk factor of CAD and can be regarded as a model of genetic-environmental interaction in the development of CAD.展开更多
It is well established that an abnormal tetrahydrofolate(THF)cycle causes the accumulation of hydrogen peroxide(H_(2)O_(2))and leaf senescence,however,the molecular mechanism underlying this relationship remains large...It is well established that an abnormal tetrahydrofolate(THF)cycle causes the accumulation of hydrogen peroxide(H_(2)O_(2))and leaf senescence,however,the molecular mechanism underlying this relationship remains largely unknown.Here,we reported a novel rice tetrahydrofolate cycle mutant,which exhibited H_(2)O_(2)accumulation and early leaf senescence phenotypes.Map-based cloning revealed that HPA1 encodes a tetrahydrofolate deformylase,and its deficiency led to the accumulation of tetrahydrofolate,5-formyl tetrahydrofolate and 10-formyl tetrahydrofolate,in contrast,a decrease in 5,10-methenyl-tetrahydrofolate.The expression of tetrahydrofolate cycle-associated genes encoding serine hydroxymethyl transferase,glycine decarboxylase and 5-formyl tetrahydrofolate cycloligase was significantly down-regulated.In addition,the accumulation of H_(2)O_(2)in hpa1 was not caused by elevated glycolate oxidation.Proteomics and enzyme activity analyses further revealed that mitochondria oxidative phosphorylation complex I and complex V were differentially expressed in hpa1,which was consistent with the H_(2)O_(2)accumulation in hpa1.In a further feeding assay with exogenous glutathione(GSH),a non-enzymatic antioxidant that consumes H_(2)O_(2),the H_(2)O_(2)accumulation and leaf senescence phenotypes of hpa1 were obviously compensated.Taken together,our findings suggest that the accumulation of H_(2)O_(2)in hpa1 may be mediated by an altered folate status and redox homeostasis,subsequently triggering leaf senescence.展开更多
Tetrahydrofolate (THF) coenzymes are involved in biochemical transfer of aone-carbon fragment at different oxidation levels. The study of THF models may providea valuable class of reagents for group transfer reactions...Tetrahydrofolate (THF) coenzymes are involved in biochemical transfer of aone-carbon fragment at different oxidation levels. The study of THF models may providea valuable class of reagents for group transfer reactions with practical significance. Onlya few researches about 5, 10-methenyl-THF models have been reported in literature.展开更多
基金Supported by the Xishan District Science and Technology Plan Project of Kunming.
文摘BACKGROUND Variations in the methylene tetrahydrofolate reductase(MTHFR)gene have been reported as risk factors for numerous conditions,including cardiovascular disease,thrombophilia,stroke,hypertension and pregnancy-related complications.Moreover,it was reported there is an association between breast cancer and mutations in MTHFR-C677T.However,whether there is an association between MTHFR gene polymorphism and granulomatous lobular mastitis or not has been rarely investigated.AIM To analyze the association between MTHFR gene polymorphism and granulomatous lobular mastitis.METHODS Fifty-one patients with granulomatous lobular mastitis admitted to The First Hospital of Kunming were selected as study samples.Their hospitalization time ranged from February 2018 to February 2019.The 51 patients were included in the experimental group,and another 51 women who underwent physical examination at The First Hospital of Kunming in the same period were included in the control group.Deoxyribonucleic acid and MTFR genetic polymorphism testing were performed in each group.The association between MTHFR gene polymorphism and granulomatous lobular mastitis was observed.RESULTS There were significant differences in genotype frequency and allele frequency of C/C and C/T between the experimental group and the control group(all P<0.05).However,there was no significant difference in frequency of T/T genotype between the two groups(P>0.05).In addition,there was no significant difference in genotype frequency and allele frequency of A/A,A/C and C/C between the two groups(P>0.05).CONCLUSION MTHFR gene C677T locus polymorphism is closely related to granulomatous lobular mastitis.
文摘The hydrolysis products of tetrahydrotblate model compound 4 were a mixture of 6 and7 and the rearrangement reaction between 6 and 7 via 5 was in a state of equilibrium. confirmed by1HNMR and IR spectra.
文摘Objective To review the association of methylene tetrahydrofolate reductase (MTHFR) C677T mutant with coronary artery disease, as well as to highlight the results of some of these studies and to emphasize the need to focus on the genetic architecture of CAD. Data SourcesData used in this article is mainly from relevant articles obtained through Pubmed, OVID and Google Scholar published from 1980 to 2008. Major studies and trials in this period were taken into account to draw accurate conclusion on the relation of those mutations in MTHFR with homocysteinemia and CAD. ResultOur analysis shows that hyperhomocysteinemia, a risk factor for occlusive arterial diseases, can be caused by disruptions of homocysteine metabolism catalyzed by MFTHR. A common alanine to valine mutation in MTHFR may contribute to mild heperhomocysteinemia in CAD. Individuals with the homozygous mutant genotype had higher plasma homocysteine, particularly when plasma folate was below the median value. ConclusionThis MTHFR mutant in the setting of insufficient folate may be a risk factor of CAD and can be regarded as a model of genetic-environmental interaction in the development of CAD.
基金the National Key Research and Development Program of China(2016YFD0101801)the National Natural Science Foundation of China(91735303 and 91335103)+2 种基金the Natural Science Foundation of Zhejiang(LY18C130010,LY18C130009,and LY20C130004)the Science and Technology Project of Hangzhou(20180432B03,20180432B09,and 20180432B04)the Foundation of Zhejiang Education Department(Y201431296)。
文摘It is well established that an abnormal tetrahydrofolate(THF)cycle causes the accumulation of hydrogen peroxide(H_(2)O_(2))and leaf senescence,however,the molecular mechanism underlying this relationship remains largely unknown.Here,we reported a novel rice tetrahydrofolate cycle mutant,which exhibited H_(2)O_(2)accumulation and early leaf senescence phenotypes.Map-based cloning revealed that HPA1 encodes a tetrahydrofolate deformylase,and its deficiency led to the accumulation of tetrahydrofolate,5-formyl tetrahydrofolate and 10-formyl tetrahydrofolate,in contrast,a decrease in 5,10-methenyl-tetrahydrofolate.The expression of tetrahydrofolate cycle-associated genes encoding serine hydroxymethyl transferase,glycine decarboxylase and 5-formyl tetrahydrofolate cycloligase was significantly down-regulated.In addition,the accumulation of H_(2)O_(2)in hpa1 was not caused by elevated glycolate oxidation.Proteomics and enzyme activity analyses further revealed that mitochondria oxidative phosphorylation complex I and complex V were differentially expressed in hpa1,which was consistent with the H_(2)O_(2)accumulation in hpa1.In a further feeding assay with exogenous glutathione(GSH),a non-enzymatic antioxidant that consumes H_(2)O_(2),the H_(2)O_(2)accumulation and leaf senescence phenotypes of hpa1 were obviously compensated.Taken together,our findings suggest that the accumulation of H_(2)O_(2)in hpa1 may be mediated by an altered folate status and redox homeostasis,subsequently triggering leaf senescence.
基金Project supported by the Chinese Science Foundation and Shanxi Provincial Science Foundation.
文摘Tetrahydrofolate (THF) coenzymes are involved in biochemical transfer of aone-carbon fragment at different oxidation levels. The study of THF models may providea valuable class of reagents for group transfer reactions with practical significance. Onlya few researches about 5, 10-methenyl-THF models have been reported in literature.