A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.
Five patients with diminished activity of complex III of the mitochondrial respiratory chain have been screened for mutations in the mitochondrial cytochrome b (cyt b) gene. In 1 patient, a young boy with an akinetic rigid syndrome and a mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), a novel 4-base pair deletion was identified. This mutation in this highly conserved gene is considered to be pathogenic since it is a heteroplasmic frame shift mutation predicted to lead to a truncated protein.
De Coo
I F
IF
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Renier
W O
WO
Ruitenbeek
W
W
Ter Laak
H J
HJ
Bakker
M
M
Schägger
H
H
Van Oost
B A
BA
Smeets
H J
HJ
D000328:Adult; D015139:Blotting, Southern; D003573:Cytochrome b Group / Q000235:genetics*; D004252:DNA Mutational Analysis; D014450:Electron Transport Complex III / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications / Q000235:genetics*; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D010085:Oxidative Phosphorylation; D010302:Parkinson Disease, Secondary / Q000150:complications / Q000235:genetics*; D010641:Phenotype
D003573:Cytochrome b Group; D014450:Electron Transport Complex III