Article
Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease.
Journal of molecular medicine (Berlin, Germany) - 1 Apr 2010
Arning Larissa, Haghikia Aiden, Taherzadeh-Fard Elahe, Saft Carsten, Andrich Jürgen, Pula Bartoz, Höxtermann Stefan, Wieczorek Stefan, Akkad Denis Amer, Perrech Moritz, Gold Ralf, Epplen Jörg Thomas, Chan Andrew
Abstract excerpt
Mitochondrial dysfunction has been implicated in the pathogenesis of Huntington disease (HD), a primarily neurodegenerative disorder that results from an expansion in the polymorphic trinucleotide CAG tract in the HD gene. In order to evaluate whether mitochondrial DNA (mtDNA) variation contributes to HD phenotype we genotyped 13 single nucleotide polymorphisms (SNPs) that define the major European mtDNA...
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