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Gusic, M. ; Prokisch, H.

Genetic basis of mitochondrial diseases.

FEBS Lett. 595, 1132-1158 (2021)
Publ. Version/Full Text DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Mitochondrial disorders are monogenic disorders characterized by a defect in oxidative phosphorylation and caused by pathogenic variants in one of over 340 different genes. The implementation of whole exome sequencing has led to a revolution in their diagnosis, duplicated the number of associated disease genes, and significantly increased the diagnosed fraction. However, the genetic etiology of a substantial fraction of patients exhibiting mitochondrial disorders remains unknown, highlighting limitations in variant detection and interpretation, which calls for improved computational and DNA sequencing methods, as well as the addition of OMICS tools. More intriguingly, this also suggests that some pathogenic variants lie outside of the protein-coding genes and that the mechanisms beyond the Mendelian inheritance and the mtDNA are of relevance. This review covers the current status of the genetic basis of mitochondrial diseases, discusses current challenges and perspectives, and explores the contribution of factors beyond the protein-coding regions and monogenic inheritance in the expansion of the genetic spectrum of disease.
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Publication type Article: Journal article
Document type Review
Corresponding Author
Keywords Diagnostics ; Genetics ; Metabolic Disorders ; Mitochondrial Disease ; Multi-omics ; Non-coding ; Oxidative Phosphorylation ; Variants
ISSN (print) / ISBN 0014-5793
e-ISSN 1873-3468
Journal FEBS Letters
Quellenangaben Volume: 595, Issue: 8, Pages: 1132-1158 Article Number: , Supplement: ,
Publisher Elsevier
Publishing Place 111 River St, Hoboken 07030-5774, Nj Usa
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants Horizon2020 through the ERA PerMed project PerMiM
Horizon2020 through the E-Rare Project GENOMIT European Network for Mitochondrial Disease
German BMBF
German Federal Ministry of Education and Research (BMBF)