Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromes

J Biosci. 2024:49:32.

Abstract

Mitochondrial DNA depletion syndromes (MDS) encompass a wide spectrum of rare genetic disorders caused by severe reduction in mitochondrial DNA (mtDNA), and exhibit heterogenous phenotypes classified as myopathic, encephalomyopathic, hepatocerebral, and neurogastrointestinal. Prognosis for such a spectrum of diseases is poor and is majorly dependent on symptomatic treatment and nutritional supplementation. Understanding the mechanistic aspect of mtDNA depletion can help bring forth a new era of medicine, moving beyond symptomatic treatment and focusing more on organelle-targeted therapies. In this review, we highlight some of the proposed mechanistic bases of mtDNA depletion and the latest therapeutic measures used to treat MDS.

Publication types

  • Review

MeSH terms

  • DNA, Mitochondrial / genetics
  • Humans
  • Mitochondria / genetics
  • Mitochondrial Diseases* / genetics
  • Mitochondrial Diseases* / therapy
  • Mutation
  • Phenotype

Substances

  • DNA, Mitochondrial