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Journal Article Epublish 2 citations

PubMed: 39564165 DOI: 10.5498/wjp.v14.i11.1746

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

World J Psychiatry 14(11):1746-1754

Authors: 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

Affiliations

  • Suzhou Medical College, Soochow University, Suzhou 215123, Jiangsu Province, China. Department of Psychiatry, Affiliated Kangning Hospital of Ningbo University, Ningbo Kangning Hospital, Ningbo 315201, Zhejiang Province, China.
  • Department of Psychiatry, Affiliated Kangning Hospital of Ningbo University, Ningbo Kangning Hospital, Ningbo 315201, Zhejiang Province, China.
  • Department of Psychiatry, Xiangshan Third People's Hospital, Ningbo 315700, Zhejiang Province, China.
  • Department of Psychiatry, Suzhou Guangji Hospital, The Affiliated Guangji Hospital of Soochow University, Suzhou 215137, Jiangsu Province, China.

Abstract

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 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 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.

MeSH

Depression, Genes, Genome, Depressive Disorder, Dna, Mitochondrial, Genome, Mitochondrial, Mutation, Depressive Disorder, Major

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