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Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease |
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| Authors: | David K Simon Nathan Pankratz Diane K Kissell Michael W Pauciulo Cheryl A Halter Alice Rudolph Ronald F Pfeiffer William C Nichols Tatiana Foroud the Parkinson Study Group - PROGENI Investigators |
| Affiliation: | 1.Department of Neurology,Beth Israel Deaconess Medical Center and Harvard Medical School,Boston,USA;2.Department of Medical and Molecular Genetics,Indiana University Medical Center,Indianapolis,USA;3.Division of Human Genetics,Cincinnati Children's Hospital Research Center,Cincinnati,USA;4.Department of Neurology,University of Rochester School of Medicine,Rochester,USA;5.Department of Neurology,University of Tennessee School of Medicine,Memphis,USA;6.Department of Pediatrics,University of Cincinnati School of Medicine,Cincinnati,USA |
| Abstract: | BackgroundMitochondrial function is impaired in Parkinson's disease (PD) and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitulated in cell lines expressing mitochondrial DNA (mtDNA) from PD patients, implicating mtDNA variants or mutations, though the role of mtDNA variants or mutations in PD risk remains unclear. We investigated the potential contribution of mtDNA variants or mutations to the risk of PD. |
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