Mitochondrial Diseases: A Diagnostic Revolution.
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
Schon, Katherine R
Ratnaike, Thiloka
van den Ameele, Jelle
Horvath, Rita https://orcid.org/0000-0002-9841-170X
Chinnery, Patrick F
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.
Description
Keywords
genetic diagnosis, mitochondrial disease, molecular diagnostics, mtDNA mutation, whole-genome sequencing, DNA, Mitochondrial, Genome, Mitochondrial, Humans, Mitochondrial Diseases, Mutation, Whole Genome Sequencing
Journal Title
Trends Genet
Conference Name
Journal ISSN
0168-9525
1362-4555
1362-4555
Volume Title
36
Publisher
Elsevier BV
Publisher DOI
Sponsorship
Wellcome Trust (212219/Z/18/Z)
Addenbrooke's Charitable Trust (ACT) (code 900163, minute ref 29/18, Katherine Schon)
MRC (MR/S035699/1)
Wellcome Trust (109915_A_15_Z)
Wellcome Trust (219615/Z/19/Z)
Medical Research Council (MC_UU_00015/7)
Addenbrooke's Charitable Trust (ACT) (code 900163, minute ref 29/18, Katherine Schon)
MRC (MR/S035699/1)
Wellcome Trust (109915_A_15_Z)
Wellcome Trust (219615/Z/19/Z)
Medical Research Council (MC_UU_00015/7)