MERRF syndrome
| MERRF syndrome | |
|---|---|
 | |
| "ragged red fibers" in MELAS syndrome | |
| Classification and external resources | |
| Specialty | neurology |
| ICD-10 | G31.8 |
| ICD-9-CM | 277.87 |
| OMIM | 545000 |
| DiseasesDB | 30794 |
| MeSH | D017243 |
| GeneReviews | |
MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a mitochondrial disease. It is extremely rare, with an estimated prevalence of 1/400,000 in Northern Europe, and has varying degrees of expressivity owing to heteroplasmy.[1]
Presentation
It involves the following characteristics:
- progressive myoclonic epilepsy
- "Ragged Red Fibers" - clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "Ragged Red Fibers" when muscle is stained with modified Gömöri trichrome stain
- short stature
- hearing loss
- lactic acidosis
- exercise intolerance
- poor night vision
Causes
The MERRF syndrome is caused by a maternally-inherited mutation at position 8344 in the mitochondrial genome in over 80% of cases. This point mutation disrupts the mitochondrial gene for tRNA-Lys and so disrupts synthesis of proteins essential for oxidative phosphorylation.
Many genes are involved.[2] These include:
Treatment
Like many mitochondrial diseases, there is no cure for MERRF and treatment is primarily symptomatic. High doses of Coenzyme Q10 and L-Carnitine have been tried with little success as therapies in hopes of improving mitochondrial function.[7]
See also
References
- ↑ Gene Reviews: MERRF
- ↑ Online Mendelian Inheritance in Man (OMIM) MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF -545000
- ↑ Zeviani M, Muntoni F, Savarese N, et al. (1993). "A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene". Eur. J. Hum. Genet. 1 (1): 80–7. PMID 8069654.
- ↑ Melone MA, Tessa A, Petrini S, et al. (February 2004). "Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype". Arch. Neurol. 61 (2): 269–72. PMID 14967777. doi:10.1001/archneur.61.2.269.
- ↑ Nakamura M, Nakano S, Goto Y, et al. (September 1995). "A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome". Biochem. Biophys. Res. Commun. 214 (1): 86–93. PMID 7669057. doi:10.1006/bbrc.1995.2260.
- ↑ Mancuso M, Filosto M, Mootha VK, et al. (June 2004). "A novel mitochondrial tRNAPhe mutation causes MERRF syndrome". Neurology. 62 (11): 2119–21. PMID 15184630. doi:10.1212/01.wnl.0000127608.48406.f1.
- ↑ Gene reviews: MERRF: Management of patients
External links
- MERRF Syndrome at the US National Library of Medicine Medical Subject Headings (MeSH)
- merrf at NIH/UW GeneTests