J Genet Med.  2013 Jun;10(1):20-26. 10.5734/JGM.2013.10.1.20.

Genetics of Mitochondrial Myopathies

• Shin JH
• Kim DS

• KMID: 2055574
• DOI: http://doi.org/10.5734/JGM.2013.10.1.20

Abstract

Mitochondrion is an intracellular organelle with its own genome. Its function in cellular metabolism is indispensable that mitochondrial dysfunction gives rise to multisystemic failure. The manifestation is most prominent with tissues of high energy demand such as muscle and nerve. Mitochondrial myopathies occur not only by mutations in mitochondrial genome, but also by defects in nuclear genes or secondarily by toxic insult on mitochondrial replication. Currently curative treatment modality does not exist and symptomatic treatment remains mainstay. Administration of L-arginine holds great promise according to the recent reports. Advances in mitochondrial RNA import might enable a new therapeutic strategy.

Keyword

Mitochondrial myopathies; MELAS syndrome; MERRF syndrome; Progressive external ophthalmoplegia; Heteroplasmy; Histochemistry

MeSH Terms

Arginine
Genome
Genome, Mitochondrial
MELAS Syndrome
MERRF Syndrome
Mitochondria
Mitochondrial Myopathies
Muscles
Ophthalmoplegia, Chronic Progressive External
Organelles
RNA
Arginine
RNA