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.
|Publication status||Published - 2020|
- Diagnostics, Mitochondrial disorders, Non-protein-coding DNA, Pathogenic non-coding variants