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Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Mitochondrial dysfunction induced by variation in the non-coding genome - A proposed workflow to improve diagnostics

Publikation: Bidrag til tidsskriftLetterForskningpeer review

DOI

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Vis graf over relationer

Mitochondrial disorders are one of the most common inherited metabolic disorders and are caused by variants in nuclear genes or the mitochondrial genome. Additionally, there is a large group of patients displaying clinical symptoms, where the genetic background is unknown. Mitochondrial disorders have a huge variety in their clinical presentation, making diagnostics challenging. Genomes of higher organisms contain around 95% non-protein-coding DNA. Recently, non-protein-coding sequences have been shown to affect gene expression in many cellular processes, including mitochondrial functioning. As these insights are not frequently incorporated in diagnostics we propose a workflow utilizing this knowledge for faster diagnostics of patients lacking a molecular diagnosis.

OriginalsprogEngelsk
TidsskriftMitochondrion
Vol/bind53
Sider (fra-til)255-259
Antal sider5
ISSN1567-7249
DOI
StatusUdgivet - jul. 2020

Bibliografisk note

Copyright © 2020 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

ID: 61710666