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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Mitochondrial dysfunction induced by variation in the non-coding genome - A proposed workflow to improve diagnostics

Research output: Contribution to journalLetterResearchpeer-review

  1. Partial inhibition of mitochondrial-linked pyrimidine synthesis increases tumorigenic potential and lysosome accumulation

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Plasma lactate responses during and after submaximal handgrip exercise are not diagnostically helpful in mitochondrial myopathy

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  3. Mitochondrion-driven nephroprotective mechanisms of novel glucose lowering medications

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  4. Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Muscle contractility of leg muscles in patients with mitochondrial myopathies

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  1. DNA methylation episignature in Gabriele-de Vries syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Research output: Contribution to journalJournal articleResearchpeer-review

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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 languageEnglish
JournalMitochondrion
Volume53
Pages (from-to)255-259
Number of pages5
ISSN1567-7249
DOIs
Publication statusPublished - Jul 2020

    Research areas

  • Diagnostics, Mitochondrial disorders, Non-protein-coding DNA, Pathogenic non-coding variants

ID: 61710666