Fandom

Psychology Wiki

MERRF syndrome

34,203pages on
this wiki
Add New Page
Talk0 Share

Assessment | Biopsychology | Comparative | Cognitive | Developmental | Language | Individual differences | Personality | Philosophy | Social |
Methods | Statistics | Clinical | Educational | Industrial | Professional items | World psychology |

Clinical: Approaches · Group therapy · Techniques · Types of problem · Areas of specialism · Taxonomies · Therapeutic issues · Modes of delivery · Model translation project · Personal experiences ·


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

|}

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

This page uses Creative Commons Licensed content from Wikipedia (view authors).

Ad blocker interference detected!


Wikia is a free-to-use site that makes money from advertising. We have a modified experience for viewers using ad blockers

Wikia is not accessible if you’ve made further modifications. Remove the custom ad blocker rule(s) and the page will load as expected.

Also on Fandom

Random Wiki