MERRF syndrome
| Classification according to ICD-10 | |
|---|---|
| G31.81 | Mitochondrial cytopathy MERRF syndrome |
| ICD-10 online (WHO version 2019) | |
The MERRF syndrome (of English. Myoclonic epilepsy with ragged red fiber ) is a disease that in the group of mitochondrial myopathies is expected. The syndrome manifests itself in a clonic muscle spasticity , epileptic seizures, cerebellar ataxia and in microscopically visible changes in the muscles, called ragged red fibers (RRF, in German shaggy red fibers ).
MERRF syndrome is caused by a maternally inherited mutation at position 8344 (the most common mutation, 80%) in the mitochondrial genome . This point mutation A 8344 G prevents the post-transcriptional modification of the tRNA -Lys at the wobble base U34, which is necessary for correct codon - anticodon recognition, and thus presumably affects the synthesis of the mitochondrial proteins that are essential for oxidative phosphorylation .
Treatment is symptom-oriented with anti-epileptic drugs and muscle relaxants ; Healing is not yet possible.
literature
- S. DiMauro, M. Hirano: Myoclonic Epilepsy Associated with Ragged-Red Fibers . In: GeneReviews . Books @ NCBI , PMID 20301693 .
- Y. Kirino, T. Suzuki: Human mitochondrial diseases associated with tRNA wobble modification deficiency. In: RNA biology. Volume 2, Number 2, April 2005, pp. 41-44, ISSN 1555-8584 . PMID 17132941 .
