Published online Nov 19, 2024. doi: 10.5498/wjp.v14.i11.1746
Revised: September 6, 2024
Accepted: October 28, 2024
Published online: November 19, 2024
Processing time: 253 Days and 0.3 Hours
Globally, the World Health Organization ranks major depressive disorder (MDD) as the leading cause of disability. However, MDD molecular etiology is still poor
To explore the possible association between mitochondrial ND6 T14502C muta
Clinical data were collected from two pedigrees, and detailed mitochondrial ge
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) poly
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.
Core Tip: In this study, we report the clinical, genetic and molecular characterization of two Chinese families with major depressive disorder (MDD). Sequence analyses of mitochondrial genomes from these pedigrees revealed homoplasmic T14502C (I58V) mutation. This observation of the T14502C mutation in two genetically unrelated individuals who suffer from depression strongly suggests that this mutation might play a role in the development of MDD.