Major depressive disorder is associated with mitochondrial ND6 T14502C mutation in two Han Chinese families  

作　　者：Pan Jing Hai-Hang Yu Ting-Ting Wu Bi-Hua Yu Ming Liang Ting-Ting Xia Xue-Wen Xu Ting Xu Ling-Jiang Liu Xiao-Bin Zhang 

机构地区：[1]Suzhou Medical College,Soochow University,Suzhou 215123,Jiangsu Province,China [2]Department of Psychiatry,Affiliated Kangning Hospital of Ningbo University,Ningbo Kangning Hospital,Ningbo 315201,Zhejiang Province,China [3]Department of Psychiatry,Xiangshan Third People’s Hospital,Ningbo 315700,Zhejiang Province,China [4]Department of Psychiatry,Suzhou Guangji Hospital,The Affiliated Guangji Hospital of Soochow University,Suzhou 215137,Jiangsu Province,China

出　　处：《World Journal of Psychiatry》2024年第11期1746-1754,共9页世界精神病学杂志（英文）

基　　金：Supported by the Zhejiang Medical and Health Science and Technology Project,No.2023KY1126;Suzhou Key Technologies Program,No.SKY2021063;Jiangsu Province Social Development Project,No.BE2020764;Suzhou Clinical Medical Center for Mood Disorders,No.Szlcyxzx202109;Suzhou Clinical Key Disciplines for Geriatric Psychiatry,No.SZXK202116;Suzhou Key Laboratory,No.SZS2024016。

摘　　要：BACKGROUND Globally,the World Health Organization ranks major depressive disorder(MDD)as the leading cause of disability.However,MDD molecular etiology is still poorly understood.AIM To explore the possible association between mitochondrial ND6 T14502C mutation and MDD.METHODS Clinical data were collected from two pedigrees,and detailed mitochondrial genomes were obtained for the two proband members.The assessment of the resulting variants included an evaluation of their evolutionary conservation,allelic frequencies,as well as their structural and functional consequences.Detailed mitochondrial whole genome analysis,phylogenetic,and haplotype analysis were performed on the probands.RESULTS Herein,we reported the clinical,genetic,and molecular profiling of two Chinese families afflicted with MDD.These Chinese families exhibited not only a range of onset and severity ages in their depression but also extremely low penetrances to MDD.Sequence analyses of mitochondrial genomes from these pedigrees have resulted in the identification of a homoplasmic T14502C(I58V)mutation.The polymorphism is located at a highly conserved isoleucine at position 58 of ND6 and distinct mitochondrial DNA(mtDNA)polymorphisms originating from haplogroups M10 and H2.CONCLUSION Identifying the T14502C mutation in two individuals with no genetic relation who exhibit symptoms of depression provides compelling evidence that this mutation may be implicated in MDD development.Nonetheless,the two Chinese pedigrees that carried the T14502C mutation did not exhibit any functionally significant mutations in their mtDNA.Therefore,the phenotypic expression of the T14502C mutation related to MDD may be influenced by the nuclear modifier gene(s)or environmental factors.

关 键 词：Major depressive disorder Mitochondrial DNA ND6 T14502C MUTATION HAPLOGROUP CHINESE 

分 类 号：R749.4[医药卫生—神经病学与精神病学]