This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Mitochondrial disease

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The process of oxidative phosphorylation occurs in the mitochondrion. The mitochondrial proteins necessary for oxidative phosphorylation are coded both by nuclear DNA and by mitochondrial DNA. Protein and tRNA genes coded by mitochondrial DNA are more prone to mutation than nuclear genes.

Syndromes caused by point mutations in mitochondrial DNA are maternally inherited because only 0.1% of mitochondrial DNA is contributed by the sperm. Examples include:

  • myoclonic epilepsy and ragged-end fibre disease (MERRF)
  • mitochondrial encephalomyopathy, lactic acidosis and stroke-like symptoms (MELAS)
  • Leber's hereditary optic neuropathy (LHON)
  • neurogenic muscle weakness, ataxia and retinitis pigmentosum (NARP)
  • Leigh disease

Syndromes caused by insertions or deletions in mitochondrial DNA are usually sporadic. Examples include:

  • Kearns-Sayre syndrome (KSS)
  • Pearson's marrow/pancreas syndrome
  • chronic external ophthalmoplegia (CEO)

Antiviral nucleoside analogues, e.g. zidovudine, are toxic to mitochondria and have adverse effects similar to the mitochondrial diseases listed above.


Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.