MERRF syndrome

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MERRF syndrome
Classification and external resources
Ragged red fibers in MELAS.jpg
Example of "ragged red fibers" in MELAS syndrome.
ICD-10 G31.8
ICD-9 277.87
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[edit]

It involves the following characteristics:

Causes[edit]

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[edit]

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[edit]

References[edit]

  1. ^ Gene Reviews: MERRF
  2. ^ Online 'Mendelian Inheritance in Man' (OMIM) MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF -545000
  3. ^ 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. 
  4. ^ 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. doi:10.1001/archneur.61.2.269. PMID 14967777. 
  5. ^ 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. doi:10.1006/bbrc.1995.2260. PMID 7669057. 
  6. ^ Mancuso M, Filosto M, Mootha VK, et al. (June 2004). "A novel mitochondrial tRNAPhe mutation causes MERRF syndrome". Neurology 62 (11): 2119–21. doi:10.1212/01.wnl.0000127608.48406.f1. PMID 15184630. 
  7. ^ Gene reviews: MERRF: Management of patients

External links[edit]