Investigation of the mitochondrial genome in patients with atypical motor neuron disease.
The molecular aetiology of many patients with motor neuron disease (MND) remains unknown. Recent evidence of mitochondrial dysfunction, in particular the finding of histochemical abnormalities and pathogenic mitochondrial DNA (mtDNA) mutations, has prompted us to investigate further the role of mtDNA abnormalities in a cohort of thirteen patients with atypical MND presentations by whole mitochondrial genome sequencing. No pathogenic mutations were detected suggesting that inherited mtDNA mutations are not a common cause of atypical MND presentations.
Phoenix
Catherine
C
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle, Newcastle NE2 4HH, UK.
Taylor
Geoffrey A
GA
Hartley
Judith
J
Nixon
Hannah
H
Ince
Paul G
PG
Shaw
Pamela J
PJ
Turnbull
Douglass M
DM
Taylor
Robert W
RW
D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D030561:Databases, Nucleic Acid; D005260:Female; D016678:Genome / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000235:genetics*; D011110:Polymorphism, Genetic
D004272:DNA, Mitochondrial