Mitochondrial Diseases: A Diagnostic Revolution

Trends Genet. 2020 Sep;36(9):702-717. doi: 10.1016/j.tig.2020.06.009. Epub 2020 Jul 13.

Abstract

Mitochondrial disorders have emerged as a common cause of inherited disease, but are traditionally viewed as being difficult to diagnose clinically, and even more difficult to comprehensively characterize at the molecular level. However, new sequencing approaches, particularly whole-genome sequencing (WGS), have dramatically changed the landscape. The combined analysis of nuclear and mitochondrial DNA (mtDNA) allows rapid diagnosis for the vast majority of patients, but new challenges have emerged. We review recent discoveries that will benefit patients and families, and highlight emerging questions that remain to be resolved.

Keywords: genetic diagnosis; mitochondrial disease; molecular diagnostics; mtDNA mutation; whole-genome sequencing.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • DNA, Mitochondrial / analysis*
  • DNA, Mitochondrial / genetics*
  • Genome, Mitochondrial*
  • Humans
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Mutation*
  • Whole Genome Sequencing / methods*

Substances

  • DNA, Mitochondrial