Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients

Genomics. 1993 Jul;17(1):171-84. doi: 10.1006/geno.1993.1299.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics*
  • Animal Population Groups / genetics
  • Animals
  • Base Sequence
  • Cohort Studies
  • Continental Population Groups / genetics
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • DNA, Ribosomal / genetics*
  • European Continental Ancestry Group / genetics
  • Female
  • Genetic Variation*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • NADH Dehydrogenase / genetics*
  • Nucleic Acid Conformation
  • Parkinson Disease / genetics*
  • Phylogeny
  • Plants / genetics
  • Point Mutation
  • Polymorphism, Restriction Fragment Length*
  • RNA, Ribosomal / genetics*
  • RNA, Ribosomal, 16S / genetics*
  • RNA, Transfer, Glu / genetics*
  • Species Specificity

Substances

  • DNA, Mitochondrial
  • DNA, Ribosomal
  • RNA, Ribosomal
  • RNA, Ribosomal, 16S
  • RNA, Transfer, Glu
  • RNA, ribosomal, 12S
  • NADH Dehydrogenase