Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Psychiatry. Feb 19, 2023; 13(2): 75-83
Published online Feb 19, 2023. doi: 10.5498/wjp.v13.i2.75
Major depressive disorder is correlated with the mitochondrial ND1 T3394C mutation in two Han Chinese families: Two case reports
Pan Jing, Xi Mei, Yuan-Yuan Zhang, Fei-Jie Zheng, Xiao-Min Luo, Ling-Jiang Liu, Hai-Hang Yu, Xiao-Bin Zhang
Pan Jing, Xi Mei, Yuan-Yuan Zhang, Fei-Jie Zheng, Xiao-Min Luo, Ling-Jiang Liu, Hai-Hang Yu, Department of Psychiatric, Ningbo Kangning Hospital, Ningbo 315201, Zhejiang Province, China
Xiao-Bin Zhang, Department of Psychiatry, Suzhou Guangji Hospital, Suzhou 215003, Jiangsu Province, China
Author contributions: Jing P participated in the conceptualization, methodology, data curation, original draft writing, visualization, and formal analysis; Mei X, Zhang YY, Zheng FJ, Luo XM, Liu LJ, and Yu HH contributed to data collection, writing of the original draft, review, and editing; Zhang XB contributed to the creation and design, aided in writing of the paper, and reviewed it carefully for significant intellectual content; All authors participated in the work, consented to its submission to the journal, and authorized the latest report.
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; and the Zhejiang Medical and Health Science and Technology Project, No. 2023KY1126.
Informed consent statement: Written informed consent was obtained from the guardian for participation in this study.
Conflict-of-interest statement: The authors declare that no commercial or financial ties that might be considered as a potential conflict of interest existed during the conduct of the research.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xiao-Bin Zhang, MD, Chief Physician, Department of Psychiatry, Suzhou Guangji Hospital, No.11, Guangqian Road, Suzhou 215003, Jiangsu Province, China. zhangxiaobim@163.com
Received: September 30, 2022
Peer-review started: September 30, 2022
First decision: December 1, 2022
Revised: December 9, 2022
Accepted: January 16, 2023
Article in press: January 16, 2023
Published online: February 19, 2023
Processing time: 140 Days and 6.2 Hours
Abstract
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 pre-valence 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 orig-inating 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 mtDNA 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.

Keywords: Major depressive disorder; Mitochondrial DNA; ND1; Mutation; Haplogroup; Chinese; Case report

Core Tip: We characterized two Chinese families with suspected maternal transmission of major depressive disorder at the clinical, genetic, and molecular levels in the present study. Molecular investigation revealed that the T3394C mutation in the ND1 gene was present in these Chinese families.