Major depressive disorder is correlated with the mitochondrial ND1 T3394C mutation in two Han Chinese families:Two case reports  

作　　者：Pan Jing Xi Mei Yuan-Yuan Zhang Fei-Jie Zheng Xiao-Min Luo Ling-Jiang Liu Hai-Hang Yu Xiao-Bin Zhang 

机构地区：[1]Department of Psychiatric,Ningbo Kangning Hospital,Ningbo 315201,Zhejiang Province,China [2]Department of Psychiatry,Suzhou Guangji Hospital,Suzhou 215003,Jiangsu Province,China

出　　处：《World Journal of Psychiatry》2023年第2期75-83,共9页世界精神病学杂志

基　　金：Supported by the Natural Science Foundation of Ningbo,No.2018A610292;the Suzhou Key Technologies Program,No.SKY2021063;the Jiangsu Province Social Development Project,No.BE2020764;the Suzhou Clinical Medical Center for Mood Disorders,No.Szlcyxzx202109;the Zhejiang Medical and Health Science and Technology Project,No.2023KY1126。

摘　　要：BACKGROUND Major depressive disorder(MDD)is the most frequent reason of disabled people in the world,as reported by the World Health Organization.However,the diagnosis of MDD is mainly based on clinical symptoms.CASE SUMMARY The clinical,genetic,and molecular characteristics of two Chinese families with MDD are described in this study.There were variable ages of onset and severity in depression among the families.Both Chinese families had a very low prevalence of MDD.The mitochondrial genomes of these pedigrees were sequenced and indicated a homoplasmic T3394C(Y30H)mutation,with the polymorphism located at a highly conserved tyrosine at position 30 of ND1.The analysis also revealed unique sets of mitochondrial DNA(mtDNA)polymorphisms originating from haplogroups M9a3 and M9a.CONCLUSION This finding of the T3394C mutation in two unrelated depressed patients provides strong evidence that this mutation may have a part in the etiology of MDD.However,In these two Chinese families having the T3394C mutation,no functional mt DNA mutation was observed.Therefore,T3394C mutations are related with MDD,and the phenotypic manifestation of these mutations may be affected by changes in nuclear genes or environmental factors.

关 键 词：Major depressive disorder Mitochondrial DNA ND1 MUTATION HAPLOGROUP Chinese Case report 

分 类 号：R749.4[医药卫生—神经病学与精神病学]