Novel MTCYB mutation in a young patient with recurrent stroke‐like episodes and status epilepticus. Issue 11 (14th August 2014)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: American journal of medical genetics. Volume 164:Issue 11(2014.)
• Page Start: 2922
• Page End: 2925
• Publication Date: 2014-08-14
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36725
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36725-sec-0001" sec-type="section"> <p>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 (<italic>MTCYB</italic>) mutation (m.15092G&gt;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 <italic>MTCYB</italic> have been associated with isolated mitochondrial myopathy and exercise intolerance, and rarely with multisystem and/or central nervous system involvement. If the m.3243A&gt;G and other common MELAS mutations are absent in several tissues, <italic>MTCYB</italic> 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.</p> </sec> </abstract>