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Genetic basis of mitochondrial diseases.

FEBS Lett. 595, 1132-1158 (2021)
Verlagsversion DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Schlagwörter Diagnostics ; Genetics ; Metabolic Disorders ; Mitochondrial Disease ; Multi-omics ; Non-coding ; Oxidative Phosphorylation ; Variants
ISSN (print) / ISBN 0014-5793
e-ISSN 1873-3468
Zeitschrift FEBS Letters
Quellenangaben Band: 595, Heft: 8, Seiten: 1132-1158 Artikelnummer: , Supplement: ,
Verlag Elsevier
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Begutachtungsstatus Peer reviewed
Förderungen 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)