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Neuhofer, C. ; Prokisch, H.

Digenic inheritance in rare disorders and mitochondrial disease-crossing the frontier to a more comprehensive understanding of etiology.

Int. J. Mol. Sci. 25:4602 (2024)
DOI PMC
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Our understanding of rare disease genetics has been shaped by a monogenic disease model. While the traditional monogenic disease model has been successful in identifying numerous disease-associated genes and significantly enlarged our knowledge in the field of human genetics, it has limitations in explaining phenomena like phenotypic variability and reduced penetrance. Widening the perspective beyond Mendelian inheritance has the potential to enable a better understanding of disease complexity in rare disorders. Digenic inheritance is the simplest instance of a non-Mendelian disorder, characterized by the functional interplay of variants in two disease-contributing genes. Known digenic disease causes show a range of pathomechanisms underlying digenic interplay, including direct and indirect gene product interactions as well as epigenetic modifications. This review aims to systematically explore the background of digenic inheritance in rare disorders, the approaches and challenges when investigating digenic inheritance, and the current evidence for digenic inheritance in mitochondrial disorders.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Korrespondenzautor
Schlagwörter Digenic Inheritance ; Mitochondrial Disorders ; Molecular Genetics; Transfer Rnaleu(uur) Gene; Bartter-syndrome; Beta-subunit; Mutation; Association; Deafness; Protocadherin-15; Methylation; Cadherin-23; Diagnosis
ISSN (print) / ISBN 1422-0067
e-ISSN 1661-6596
Zeitschrift International Journal of Molecular Sciences
Quellenangaben Band: 25, Heft: 9, Seiten: , Artikelnummer: 4602 Supplement: ,
Verlag MDPI
Verlagsort Basel
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen BMBF (German Federal Ministry of Education and Research)