MERRF syndrome

The MERRF syndrome (of English. Myoclonic epilepsy with ragged red fiber) is a disease that is expected to be the group of mitochondrial myopathies. The syndrome manifests itself in a clonic muscle spasms, seizures, cerebellar ataxia and in microscopically visible changes in the muscles, called ragged red fibers ( RRF to German shaggy red fibers).

The MERRF syndrome is caused by a maternally inherited mutation at position 8344 (the most common mutation, 80%) in the mitochondrial genome. These point mutations A8344G prevents the need for proper codon-anticodon recognition post-transcriptional modification of the tRNA lys at the wobble base, U34 and probably affected by the synthesis of mitochondrial proteins that are essential for oxidative phosphorylation.

Treatment is symptomatic with antiepileptic drugs and muscle relaxants; Healing is not yet possible.