期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 164, 期 11, 页码 2922-2925出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36725
关键词
cytochrome b; genetics MELAS; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; mtDNA; stroke
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. (c) 2014 Wiley Periodicals, Inc.
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