DOI: 10.1073/pnas.94.26.14894. Apparent mtDNA heteroplasmy in Alzheimer’s disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes

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

10.1073/pnas.94.26.14894

Crossref journal-article

Proceedings of the National Academy of Sciences

Proceedings of the National Academy of Sciences (341)

Abstract

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

Bibliography

Hirano, M., Shtilbans, A., Mayeux, R., Davidson, M. M., DiMauro, S., Knowles, J. A., & Schon, E. A. (1997). Apparent mtDNA heteroplasmy in Alzheimerâs disease patients and in normals due to PCR amplification of nucleus-embedded mtDNAâpseudogenes. Proceedings of the National Academy of Sciences, 94(26), 14894â14899.

Authors 7

Michio Hirano (first)
Alexander Shtilbans (additional)
Richard Mayeux (additional)
Mercy M. Davidson (additional)
Salvatore DiMauro (additional)
James A. Knowles (additional)
Eric A. Schon (additional)

References 29 Referenced 108

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Dates

Type	When
Created	23 years, 1 month ago (July 26, 2002, 10:32 a.m.)
Deposited	3 years, 4 months ago (April 13, 2022, 2:34 p.m.)
Indexed	2 months ago (July 7, 2025, 1:25 a.m.)
Issued	27 years, 8 months ago (Dec. 23, 1997)
Published	27 years, 8 months ago (Dec. 23, 1997)
Published Online	27 years, 8 months ago (Dec. 23, 1997)
Published Print	27 years, 8 months ago (Dec. 23, 1997)

Funders 0

None

BibTeX

@article{Hirano_1997, title={Apparent mtDNA heteroplasmy in Alzheimer’s disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes}, volume={94}, ISSN={1091-6490}, url={http://dx.doi.org/10.1073/pnas.94.26.14894}, DOI={10.1073/pnas.94.26.14894}, number={26}, journal={Proceedings of the National Academy of Sciences}, publisher={Proceedings of the National Academy of Sciences}, author={Hirano, Michio and Shtilbans, Alexander and Mayeux, Richard and Davidson, Mercy M. and DiMauro, Salvatore and Knowles, James A. and Schon, Eric A.}, year={1997}, month=dec, pages={14894–14899} }

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