Genetics of Mitochondrial Myopathies
Journal of Genetic Medicine
;
: 20-26, 2013.
Artigo
em Inglês
| WPRIM
| ID: wpr-83946
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Arginina
/
RNA
/
Organelas
/
Genoma
/
Oftalmoplegia Externa Progressiva Crônica
/
Miopatias Mitocondriais
/
Síndrome MERRF
/
Síndrome MELAS
/
Genoma Mitocondrial
/
Mitocôndrias
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2013
Tipo de documento:
Artigo
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