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Genetic and Rare Diseases Information Center (GARD)

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Mitochondrial genetic disorders


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Overview

Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy). People with these conditions can present at any age with almost any affected body system; however, the brain, muscles, heart, liver, nerves, eyes, ears and kidneys are the organs and tissues most commonly affected. Symptom severity can also vary widely.[1][2] Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy. Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance, while those caused by mutations in nuclear DNA may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance.[1][3] Treatment varies based on the specific type of condition and the signs and symptoms present in each person.[4][1]
Last updated: 1/26/2015

References

  1. Patrick F Chinnery, PhD, FRCPath, FRCP, FMedSci. Mitochondrial Disorders Overview. GeneReviews. August 2014; http://www.ncbi.nlm.nih.gov/books/NBK1224/.
  2. About Mitochondrial Disease - Mito FAQ. MitoAction. http://www.mitoaction.org/mito-faq. Accessed 1/26/2015.
  3. Vento JM, Pappa B. Genetic counseling in mitochondrial disease. Neurotherapeutics. April 2013; 10(2):243-250.
  4. Treatments & Therapies. United Mitochondrial Disease Foundation. http://www.umdf.org/site/c.otJVJ7MMIqE/b.5692887/k.6686/Treatments__Therapies.htm. Accessed 4/3/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Mitochondrial genetic disorders. We will answer your question and update these pages with new resources and information.

Basic Information

  • MitoAction provides information on this condition for patients and caregivers.
  • The Cleveland Clinic Web site has an information page on Mitochondrial genetic disorders. Click on the Cleveland Clinic link to view this page.
  • The United Mitochondrial Disease Foundation has an information page on Mitochondrial genetic disorders.

In Depth Information

  • MitoAction provides information on this condition for health care professionals.
  • Nature Education’s Scitable provides a comprehensive explanation of mitochondrial DNA and the conditions that can be associated with mitochondrial DNA mutations.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mitochondrial genetic disorders. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.