Abstract
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 language | English |
|---|---|
| Pages (from-to) | 2922-2925 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 164 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - Nov 1 2014 |
Fingerprint
Keywords
- Cytochrome b
- Genetics MELAS
- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
- MtDNA
- Stroke
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus. / 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.
In: American Journal of Medical Genetics, Part A, Vol. 164, No. 11, 01.11.2014, p. 2922-2925.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus
AU - Mancuso, Michelangelo
AU - Nesti, Claudia
AU - Ienco, Elena Caldarazzo
AU - Orsucci, Daniele
AU - Pizzanelli, Chiara
AU - Chiti, Alberto
AU - Giorgi, Filippo S.
AU - Meschini, Maria Chiara
AU - Fontanini, Gabriella
AU - Santorelli, Filippo Maria
AU - Logerfo, Annalisa
AU - Romano, Alessandro
AU - Siciliano, Gabriele
AU - Bonuccelli, Ubaldo
PY - 2014/11/1
Y1 - 2014/11/1
N2 - 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.
AB - 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.
KW - Cytochrome b
KW - Genetics MELAS
KW - Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
KW - MtDNA
KW - Stroke
UR - http://www.scopus.com/inward/record.url?scp=84911442833&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84911442833&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.36725
DO - 10.1002/ajmg.a.36725
M3 - Article
C2 - 25125337
AN - SCOPUS:84911442833
VL - 164
SP - 2922
EP - 2925
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 11
ER -