Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotype.
Various lines of evidence demonstrate the involvement of mitochondrial dysfunction in the pathogenesis of Huntington's disease (HD). However, the precise role of mitochondria in the neurodegenerative cascade leading to HD is still unclear. Mitochondrial DNA (mtDNA) haplogroups-specific polymorphisms were previously related to several neurodegenerative diseases. The length of CAG repeat seems to be related to the clinical features of HD, such as age of onset and progression of motor impairment. The basis for the impaired cognitive functions and for the mood changes is less clear. Aim of this study was to determine whether mtDNA polymorphism(s) play the role of "modifier gene(s)" in this disease. In this work we have genotyped predefined European mtDNA haplogroups in 51 patients with HD and 181 matched controls. The frequency of the haplogroups and haplogroup clusters did not differ between the two groups, and no correlation with gender, age of onset and disease status was observed. No significant difference was observed between different haplogroups and haplogroup clusters in the cognitive or motor progression of the disease. Our study does not support any association between mtDNA haplogroups and HD.
Mancuso
Michelangelo
M
Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. mmancuso@inwind.it
Kiferle
Lorenzo
L
Petrozzi
Lucia
L
Nesti
Claudia
C
Rocchi
Anna
A
Ceravolo
Roberto
R
Orsucci
Daniele
D
Maluccio
Maria Rosaria
MR
Bonuccelli
Ubaldo
U
Filosto
Massimiliano
M
Siciliano
Gabriele
G
Murri
Luigi
L
D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D016001:Confidence Intervals; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006239:Haplotypes; D006801:Humans; D006816:Huntington Disease / Q000235:genetics* / Q000503:physiopathology*; D007558:Italy; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic
D004272:DNA, Mitochondrial