Min Xin Guan
Affiliation: Zhejiang University
- Xue L, Wang M, Li H, Wang H, Jiang F, Hou L, et al. Mitochondrial tRNA mutations in 2070 Chinese Han subjects with hypertension. Mitochondrion. 2016;30:208-21 pubmed publisher..9% cases of 2070 Han Chinese hypertensive subjects. Our findings may provide new insights into the pathophysiology of hypertension that were manifested by mitochondrial dysfunction. ..
- Wang M, Liu H, Zheng J, Chen B, Zhou M, Fan W, et al. A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction. J Biol Chem. 2016;291:21029-21041 pubmed..Our findings may provide new insights into the pathophysiology of maternally inherited diabetes and deafness, which is primarily manifested by the deficient nucleotide modification of mitochondrial tRNAGlu. ..
- Jiang P, Wang M, Xue L, Xiao Y, Yu J, Wang H, et al. A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function. Mol Cell Biol. 2016;36:1920-30 pubmed publisher..These caused increases in the production of reactive oxygen species in the mutant cybrids. The data provide evidence for the association of the tRNA(Ala) 5655A ? G mutation with hypertension. ..
- Chen X, Nie Z, Wang F, Wang J, Liu X, Zheng J, et al. Late onset nonsyndromic hearing loss in a Dongxiang Chinese family is associated with the 593T>C variant in the mitochondrial tRNAPhe gene. Mitochondrion. 2017;35:111-118 pubmed publisher..Thus, our findings may provide the new insights into the understanding of pathophysiology and valuable information for management and treatment of maternally inherited hearing loss. ..
- Jiang P, Liang M, Zhang C, Zhao X, He Q, Cui L, et al. Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Hum Mol Genet. 2016;25:3613-3625 pubmed publisher..11778G > A mutation than those carrying only 11778G > A mutation. Our findings provided new insights into the pathophysiology of LHON that were manifested by interaction between primary and secondary mtDNA mutations. ..
- Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, et al. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Hum Mol Genet. 2016;25:584-96 pubmed publisher..Our findings provided new insights into the pathophysiology of LHON that were manifested by interaction between mtDNA mutation and mutated nuclear-modifier YARS2. ..
- Meng F, Cang X, Peng Y, Li R, Zhang Z, Li F, et al. Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation. J Biol Chem. 2017;292:2881-2892 pubmed publisher..Our findings provided new insights into the pathophysiology of maternally inherited deafness that was manifested by interaction between mtDNA mutation and nuclear modifier gene. ..
- Liu Y, Li Y, Zhu C, Tian L, Guan M, Chen Y. Mitochondrial biogenesis dysfunction and metabolic dysfunction from a novel mitochondrial tRNAMet 4467 C>A mutation in a Han Chinese family with maternally inherited hypertension. Sci Rep. 2017;7:3034 pubmed publisher..Therefore, this mutation contributes to oxidative stress and mitochondrial biogenesis dysfunction, which may be involved in the pathogenesis of hypertension. ..
- Zhou M, Wang M, Xue L, Lin Z, He Q, Shi W, et al. A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR). J Biol Chem. 2017;292:13934-13946 pubmed publisher..In conclusion, our findings may provide new insights into the pathophysiology of maternally inherited hypertension. ..
- Zhang J, Liu X, Liang X, Lu Y, Zhu L, Fu R, et al. A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis. Sci Rep. 2017;7:5704 pubmed publisher..These data provided the direct evidence for c.1198C > G mutation leading to ADOA. Our findings may provide new insights into the understanding of pathophysiology of ADOA. ..
- Chen D, Li F, Yang Q, Tian M, Zhang Z, Zhang Q, et al. The defective expression of gtpbp3 related to tRNA modification alters the mitochondrial function and development of zebrafish. Int J Biochem Cell Biol. 2016;77:1-9 pubmed publisher..In addition, this zebrafish model of mitochondrial disease may provide unique opportunities for studying defective tRNA modification, mitochondrial biogenesis, and pathophysiology of mitochondrial disorders. ..
- Zhang J, Ji Y, Liu X, Chen J, Wang B, Zhang M, et al. Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNAThr in eight Chinese pedigrees. Mitochondrion. 2018;42:84-91 pubmed publisher..Our data demonstrated the first mitochondrial tRNA mutation leading to LHON. Our findings may provide new insights into the understanding of pathophysiology of LHON. ..
- Tang X, Zheng J, Ying Z, Cai Z, Gao Y, He Z, et al. Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss. Mitochondrion. 2015;23:17-24 pubmed publisher..Thus, our findings may provide valuable information for the further understanding of pathophysiology and management of hearing loss. ..