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Mitochondrial tRNALeu(UUR) C3275T, tRNAGln T4363C and tRNALys A8343G mutations may be associated with PCOS and metabolic syndrome

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成果类型:
期刊论文
作者:
Ding, Yu*;Xia, Bo-Hou;Zhang, Cai-Juan;Zhuo, Guang-Chao
通讯作者:
Ding, Yu
作者机构:
[Zhuo, Guang-Chao; Ding, Yu] Nanjing Med Univ, Hangzhou Peoples Hosp 1, Cent Lab, Hangzhou 310006, Zhejiang, Peoples R China.
[Xia, Bo-Hou] Hunan Univ Chinese Med, Dept Pharm, Changsha 410208, Hunan, Peoples R China.
[Zhang, Cai-Juan] Hangzhou First Peoples Hosp, Dept Gynecol & Obstet, Hangzhou 310006, Zhejiang, Peoples R China.
通讯机构:
[Ding, Yu] N
Nanjing Med Univ, Hangzhou Peoples Hosp 1, Cent Lab, Hangzhou 310006, Zhejiang, Peoples R China.
语种:
英文
关键词:
MetS;PCOS;mt-tRNA mutations;Mitochondrial dysfunction
期刊:
Gene
ISSN:
0378-1119
年:
2018
卷:
642
页码:
299-306
基金类别:
Ministry of Public Health from Zhejiang Province [2013KYA158]; Hangzhou Bureau of Science and Technology [20150633B16]; Natural Science Foundation of Zhejiang ProvinceNatural Science Foundation of Zhejiang Province [LY14H270008, LY15H280007]
机构署名:
本校为其他机构
院系归属:
药学院
摘要:
Polycystic ovary syndrome (PCOS) is a very prevalent endocrine disease affecting reproductive women. Clinically, patients with this disorder are more vulnerable to develop type 2 diabetes mellitus (T2DM), cardiovascular events, as well as metabolic syndrome (MetS). To date, the molecular mechanism underlying PCOS remains largely unknown. Previously, we showed that mitochondrial dysfunction caused by mitochondrial DNA (mtDNA) mutation was an important cause for PCOS. In the current study, we described the clinical and biochemical features of a three-generation pedigree with maternally transmitt...

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