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Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. 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.
|Simplified structure of a typical mitochondrion|
Signs and symptomsEdit
Signs and symptoms include (for each of the following causes):
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS)
- Myoclonic epilepsy and ragged-red fibers (MERRF)
- Progressive myoclonic epilepsy
- Clumps of diseased mitochondria accumulate in muscle fibers and appear as "ragged-red fibers" when muscle is stained with modified Gömöri trichrome stain
- Short stature
- Kearns-Sayre syndrome (KSS)
- Chronic progressive external ophthalmoplegia (CPEO)
- Progressive ophthalmoparesis
- Symptomatic overlap with other mitochondrial myopathies
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Gomori thrichrome stain: ragged red fibers
- "Mitochondrial Myopathy Information Page | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. Retrieved 2017-02-28.
- "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. Retrieved 2008-02-08.