Mitochondrial myopathy

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Mitochondrial myopathy
Simplified structure of a typical mitochondrion

Mitochondrial myopathies are types of myopathies associated with mitochondrial disease.[1] On biopsy, the muscle tissue of patients with these diseases usually demonstrate "ragged red" muscle fibers. These ragged-red fibers contain mild accumulations of glycogen and neutral lipids, and may show an increased reactivity for succinate dehydrogenase and a decreased reactivity for cytochrome c oxidase. Inheritance was believed to be maternal (non-Mendelian extranuclear). It is now known that certain nuclear DNA deletions can also cause mitochondrial myopathy such as the OPA1 gene deletion. There are several subcategories of mitochondrial myopathies.

Signs and symptoms

Mitochondrial disease symptoms (and skeletal muscle biopsies)[2]

Signs and symptoms include (for each of the following causes):


Mitochondrial myopathy literally means mitochondrial muscle weakness, muscle weakness caused by mitochondrial dysfunction. The mitochondrion is the powerhouse of the cell. Every muscle cell has mitochondria, and if the muscle cell’s mitochondria have problems by which there is not enough energy to function or perform its duties, problems occur. The cause may be genetic, such as a variation within the POLG (polymerase gamma) gene, which causes mitochondrial DNA (mtDNA) to become damaged and lose function.


Muscle biopsy: ragged red fibers in Gömöri trichrome stain.


Although no cure currently exists, there is hope in treatment for this class of hereditary diseases with the use of an embryonic mitochondrial transplant.[3]

See also


  1. "Mitochondrial Myopathy Information Page | National Institute of Neurological Disorders and Stroke". Archived from the original on 2017-02-28. Retrieved 2017-02-28.
  2. Ahmed, Syeda T.; Craven, Lyndsey; Russell, Oliver M.; Turnbull, Doug M.; Vincent, Amy E. (1 October 2018). "Diagnosis and Treatment of Mitochondrial Myopathies". Neurotherapeutics. 15 (4): 943–953. doi:10.1007/s13311-018-00674-4. ISSN 1878-7479.
  3. "Three-parent embryo formed in lab" (web). Scientists believe they have made a potential breakthrough in the treatment of serious disease by creating a human embryo with three separate parents. BBC News. 5 February 2008. Archived from the original on 2021-04-04. Retrieved 2008-02-08.

External links

External resources