Mitochondrial myopathy
| Mitochondrial myopathy | |
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| Other names: Mitochondrial muscle disease[1] | |
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| Simplified structure of a typical mitochondrion | |
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| Specialty | Medical genetics |
Mitochondrial myopathies are types of myopathies associated with mitochondrial disease.[2] 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
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Signs and symptoms include (for each of the following causes):
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS)
- Varying degrees of cognitive impairment and dementia
- Lactic acidosis
- Strokes
- Transient ischemic attacks
- Hearing loss
- Weight loss
- 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)
- External ophthalmoplegia
- Cardiac conduction defects
- Sensorineural hearing loss
- Chronic progressive external ophthalmoplegia (CPEO)
- Progressive ophthalmoparesis
- Symptomatic overlap with other mitochondrial myopathies
Cause
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.
Diagnosis
Muscle biopsy: ragged red fibers in Gömöri trichrome stain.
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a-d)Abnormalities on skeletal muscle biopsy in mitochondrial myopathy
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Very high magnification micrograph showing ragged red fibres in a mitochondrial myopathy. Gömöi trichrome stain.
Research
Although no cure currently exists, there is hope in treatment for this class of hereditary diseases with the use of an embryonic mitochondrial transplant.[5]
See also
References
- ↑ "Mitochondrial Disorders | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. Archived from the original on 2024-04-04. Retrieved 2024-12-18.
- ↑ "Mitochondrial Myopathy Information Page | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. Archived from the original on 2017-02-28. Retrieved 2017-02-28. Archived 2017-02-28 at the Wayback Machine
- ↑ 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.
- ↑ 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.
- ↑ "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. Archived 2021-04-04 at the Wayback Machine
External links
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