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Novel MTCYB mutation in a young patient with recurrent stroke‐like episodes and status epilepticus
Author(s) -
Mancuso Michelangelo,
Nesti Claudia,
Ienco Elena Caldarazzo,
Orsucci Daniele,
Pizzanelli Chiara,
Chiti Alberto,
Giorgi Filippo S,
Meschini Maria Chiara,
Fontanini Gabriella,
Santorelli Filippo Maria,
Logerfo Annalisa,
Romano Alessandro,
Siciliano Gabriele,
Bonuccelli Ubaldo
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36725
Subject(s) - mitochondrial myopathy , lactic acidosis , mitochondrial encephalomyopathy , melas syndrome , mitochondrial disease , status epilepticus , mitochondrial dna , mitochondrial encephalomyopathies , myopathy , stroke (engine) , mitochondrial respiratory chain , mutation , respiratory chain , biology , leigh disease , medicine , genetics , pathology , mitochondrion , epilepsy , gene , neuroscience , mechanical engineering , engineering
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. © 2014 Wiley Periodicals, Inc.