The acronym "MELAS" (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) denotes patients with histological, biochemical and/or molecular evidence of mitochondrial disease who experience stroke-like episodes. Here we report on a girl with repeated stroke-like episodes and status epilepticus, who was diagnosed with MELAS due to a novel mitochondrial cytochrome b gene (MTCYB) mutation (m.15092G>A, which predicts p.G116S). Western blotting and in silico analyses suggested that this mutation could affect the stability of complex III. Cytochrome b is the only mtDNA-encoded subunit of respiratory chain complex III. Mutations in MTCYB have been associated with isolated mitochondrial myopathy and exercise intolerance, and rarely with multisystem and/or central nervous system involvement. If the m.3243A>G and other common MELAS mutations are absent in several tissues, MTCYB should be sequenced from muscle in patients with stroke-like episodes, especially if muscle histology does not support a mitochondrial myopathy and lactic acidosis is absent.
|Autori:||Mancuso M; Nesti C; Ienco EC; Orsucci D; Pizzanelli C; Chiti A; Giorgi FS; Meschini MC; Fontanini G; Santorelli FM; Logerfo A; Romano A; Siciliano G; Bonuccelli U.|
|Titolo:||Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus.|
|Anno del prodotto:||2014|
|Digital Object Identifier (DOI):||10.1002/ajmg.a.36725|
|Appare nelle tipologie:||1.1 Articolo in rivista|