Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus

Michelangelo Mancuso, Claudia Nesti, Elena Caldarazzo Ienco, Daniele Orsucci, Chiara Pizzanelli, Alberto Chiti, Filippo S. Giorgi, Maria Chiara Meschini, Gabriella Fontanini, Filippo Maria Santorelli, Annalisa Logerfo, Alessandro Romano, Gabriele Siciliano, Ubaldo Bonuccelli

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)2922-2925
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
Publication statusPublished - Nov 1 2014


  • Cytochrome b
  • Genetics MELAS
  • Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
  • MtDNA
  • Stroke

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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