Mitochondrial Diseases: A Diagnostic Revolution.

TitleMitochondrial Diseases: A Diagnostic Revolution.
Publication TypeJournal Article
Year of Publication2020
AuthorsSchon, KR, Ratnaike, T, van den Ameele, J, Horvath, R, Chinnery, PF
JournalTrends Genet
Date Published2020 Jul 13

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.

Alternate JournalTrends Genet.
Citation Key10.1016/j.tig.2020.06.009
PubMed ID32674947