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MERRF syndrome

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MERRF syndrome
Classification and external resources
Template:Px
Example of "ragged red fibers" in MELAS syndrome.
ICD-10 G318
ICD-9 277.87
OMIM 545000
DiseasesDB 30794
MeSH D017243

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 Europe, and has varying degrees of expressivity owing to heteroplasmy.[1]

PresentationEdit

It involves the following characteristics:

CausesEdit

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:

TreatmentEdit

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

ReferencesEdit

  1. Gene Reviews- MERRF
  2. OMIM 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.
  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.
  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.
  6. Mancuso M, Filosto M, Mootha VK, et al. (June 2004). A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. Neurology 62 (11): 2119–21.
  7. Gene reviews - MERRF. Management of patients

External linksEdit

Template:Mitochondrial diseases

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de:MERRF-Syndrom

es:Síndrome MERRF id:Sindrom MERRFhe:תסמונת מרףpt:Síndrome MERRF ru:Синдром MERRF zh:肌抽躍癲癇合併紅色襤褸肌纖維症

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