Mitochondrial dna variants observed in alzheimer disease and parkinson disease patients

John M. Shoffner; Michael D. Brown; Antonio Torroni; Marie T. Lott; Margaret F. Cabell; Suzanne S. Mirra; M. Flint Beal; Chi Chuan Yang; Marla Gearing; Rino Salvo; Ray L. Watts; Jorge L. Juncos; Lawrence A. Hansen; Barbara J. Crain; Michel Fayad; Calvin L. Reckord; Douglas C. Wallace

doi:10.1006/geno.1993.1299

Mitochondrial dna variants observed in alzheimer disease and parkinson disease patients

John M. Shoffner, Michael D. Brown, Antonio Torroni, Marie T. Lott, Margaret F. Cabell, Suzanne S. Mirra, M. Flint Beal, Chi Chuan Yang, Marla Gearing, Rino Salvo, Ray L. Watts, Jorge L. Juncos, Lawrence A. Hansen, Barbara J. Crain, Michel Fayad, Calvin L. Reckord, Douglas C. Wallace

Research output: Contribution to journal › Article › peer-review

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Abstract

Mitochondrial DNA (mtDNA) variants associated with Alzheimer disease (AD) and Parkinson disease (PD) were sought by restriction endonuclease analysis in a cohort of 71 late-onset Caucasian patients. A tRNA^Gln gene variant at nucleotide pair (np) 4336 that altered a moderately conserved nucleotide was present in 9/173 (5.2%) of the patients surveyed but in only 0.7% of the general Caucasian controls. One of these patients harbored an additional novel 12S rRNA 5-nucleotide insertion at np 956-965, while a second had a missense variant at np 3397 that converted a highly conserved methionine to a valine. This latter mutation was also found in an independent AD + PD patient, as was a heteroplasmic 16S rRNA variant at np 3196. Additional studies will be required to determine the significance, if any, of these mutations.

Original language	English (US)
Pages (from-to)	171-184
Number of pages	14
Journal	Genomics
Volume	17
Issue number	1
DOIs	https://doi.org/10.1006/geno.1993.1299
State	Published - Jul 1993
Externally published	Yes

ASJC Scopus subject areas

Genetics

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Shoffner, J. M., Brown, M. D., Torroni, A., Lott, M. T., Cabell, M. F., Mirra, S. S., Beal, M. F., Yang, C. C., Gearing, M., Salvo, R., Watts, R. L., Juncos, J. L., Hansen, L. A., Crain, B. J., Fayad, M., Reckord, C. L., & Wallace, D. C. (1993). Mitochondrial dna variants observed in alzheimer disease and parkinson disease patients. Genomics, 17(1), 171-184. https://doi.org/10.1006/geno.1993.1299

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title = "Mitochondrial dna variants observed in alzheimer disease and parkinson disease patients",

abstract = "Mitochondrial DNA (mtDNA) variants associated with Alzheimer disease (AD) and Parkinson disease (PD) were sought by restriction endonuclease analysis in a cohort of 71 late-onset Caucasian patients. A tRNAGln gene variant at nucleotide pair (np) 4336 that altered a moderately conserved nucleotide was present in 9/173 (5.2%) of the patients surveyed but in only 0.7% of the general Caucasian controls. One of these patients harbored an additional novel 12S rRNA 5-nucleotide insertion at np 956-965, while a second had a missense variant at np 3397 that converted a highly conserved methionine to a valine. This latter mutation was also found in an independent AD + PD patient, as was a heteroplasmic 16S rRNA variant at np 3196. Additional studies will be required to determine the significance, if any, of these mutations.",

author = "Shoffner, {John M.} and Brown, {Michael D.} and Antonio Torroni and Lott, {Marie T.} and Cabell, {Margaret F.} and Mirra, {Suzanne S.} and Beal, {M. Flint} and Yang, {Chi Chuan} and Marla Gearing and Rino Salvo and Watts, {Ray L.} and Juncos, {Jorge L.} and Hansen, {Lawrence A.} and Crain, {Barbara J.} and Michel Fayad and Reckord, {Calvin L.} and Wallace, {Douglas C.}",

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AU - Mirra, Suzanne S.

AU - Beal, M. Flint

AU - Yang, Chi Chuan

AU - Gearing, Marla

AU - Salvo, Rino

AU - Watts, Ray L.

AU - Juncos, Jorge L.

AU - Hansen, Lawrence A.

AU - Crain, Barbara J.

AU - Fayad, Michel

AU - Reckord, Calvin L.

AU - Wallace, Douglas C.

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Mitochondrial dna variants observed in alzheimer disease and parkinson disease patients

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