MERRF syndrome

MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease.

It involves the following characteristics:

• progressive myoclonic epilepsy
• 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 Gomori trichrome stain
• short stature

The MERRF syndrome is caused by a maternally-inherited mutation at position 8344 in the mitochondrial genome. This point mutation disrupts the mitochondrial gene for tRNA-Lys and so disrupts synthesis of proteins essential for oxidative phosphorylation.

Genes involved include MT-TK, MT-TL1, MT-TH, MT-TS1, MT-TS2, and MT-TF.^[1]

• Epilepsy
• Myoclonus

• MERRF+Syndrome at the US National Library of Medicine Medical Subject Headings (MeSH)
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• merrf at NIH/UW GeneTests

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