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 journalArticlepeer-review

392 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)171-184
Number of pages14
Issue number1
StatePublished - Jul 1993
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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