A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease

E Khusnutdinova, I Gilyazova… - Annals of the New …, 2008 - Wiley Online Library
E Khusnutdinova, I Gilyazova, E Ruiz‐Pesini, O Derbeneva, R Khusainova, I Khidiyatova…
Annals of the New York Academy of Sciences, 2008Wiley Online Library
Evidence continues to accrue implicating mitochondrial dysfunction in the etiology of a
number of neurodegenerative diseases. For example, Parkinson's disease (PD) can be
induced by mitochondrial toxins, and nuclear DNA (nDNA) loci linked to PD have been
associated with mitochondrial dysfunction. Although conclusions about the role of
mitochondrial DNA (mtDNA) variants in PD vary, we argue here that this is attributable to the
novel genetics of the mtDNA and the fact that clinically relevant mtDNA variation …
Evidence continues to accrue implicating mitochondrial dysfunction in the etiology of a number of neurodegenerative diseases. For example, Parkinson's disease (PD) can be induced by mitochondrial toxins, and nuclear DNA (nDNA) loci linked to PD have been associated with mitochondrial dysfunction. Although conclusions about the role of mitochondrial DNA (mtDNA) variants in PD vary, we argue here that this is attributable to the novel genetics of the mtDNA and the fact that clinically relevant mtDNA variation encompasses ancient adaptive polymorphisms, recent deleterious mutations, and somatic mutations. An mtDNA association with PD is supported by an analysis of the Russian Tatar population which revealed that polymorphisms associated with haplogroup H mtDNAs increased PD risk (odds ratio [OR]= 2.58, P= 0.0001), whereas those associated with haplogroup UK cluster mtDNAs were protective (OR = 0.38, P= 0.003). Moreover, mtDNA sequencing revealed that PD patients with either haplogroup H or UK cluster mtDNAs can harbor additional recent variants that might further modulate PD risk. Therefore, the complexity of PD genetics may reflect the complex mitochondrial genetics.
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