Apparent mtDNA heteroplasmy in Alzheimer’s disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes

• DOI: 10.1073/pnas.94.26.14894
• Publication Date: 2002-07-26T14:32:33Z
• Authors: Michio Hirano; Alexander Shtilbans; Richard Mayeux; Mercy M. Davidson; Salvatore DiMauro; James A. Knowles; Eric A. Schon
• Keywords: Heteroplasmy; Pseudogene; Nuclear DNA

In an unprecedented finding, Davis et al. [Davis, R. E., Miller, S., Herrnstadt, C., Ghosh, S. Fahy, Shinobu, L. A., Galasko, D., Thal, J., Beal, M. F., Howell, N. & Parker, W. Jr. (1997) Proc. Natl. Acad. Sci. USA 94, 4526–4531] used unusual DNA isolation method to show that healthy adults harbor a specific population of mutated mitochondrial cytochrome c oxidase ( COX ) genes coexist with normal mtDNAs. They reported this heteroplasmic was present at level 10–15% in the blood individuals and significantly higher (20–30%) patients sporadic Alzheimer’s disease. We provide compelling evidence employed resulted coamplification authentic mtDNA-encoded together highly similar -like sequences embedded nuclear (“mtDNA pseudogenes”). conclude observed heteroplasmy is artifact.