Article
Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.
Acta neuropathologica communications - 2 Feb 2017
Wei Wei, Keogh Michael J, Wilson Ian, Coxhead Jonathan, Ryan Sarah, Rollinson Sara, Griffin Helen, Kurzawa-Akanbi Marzena, Santibanez-Koref Mauro, Talbot Kevin, Turner Martin R, McKenzie Chris-Anne, Troakes Claire, Attems Johannes, Smith Colin, Al Sarraj Safa, Morris Christopher M, Ansorge Olaf, Pickering-Brown Stuart, Ironside James W, Chinnery Patrick F
Abstract excerpt
Mitochondria play a key role in common neurodegenerative diseases and contain their own genome: mtDNA. Common inherited polymorphic variants of mtDNA have been associated with several neurodegenerative diseases, and somatic deletions of mtDNA have been found in affected brain regions. However, there are conflicting reports describing the role of rare inherited variants and somatic point mutations in...
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