Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
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Journal | Mitochondrion |
Volume | 53 |
Pages (from-to) | 255-259 |
ISSN | 1567-7249 |
DOIs | |
Publication status | Published - 2020 |
- Diagnostics, Mitochondrial disorders, Non-protein-coding DNA, Pathogenic non-coding variants
Research areas
ID: 244611966