Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease

Biochem Biophys Res Commun. 1992 Jul 15;186(1):491-7. doi: 10.1016/s0006-291x(05)80834-4.


A specific mitochondrial DNA mutation at position 5460 in the ND2 gene of the human mitochondrial genome was recently reported to exist in 10 of 19 patients with Alzheimer's disease, implying an association between this mtDNA mutation and the occurrence of the disease. We have analyzed tissues from 15 patients with Alzheimer's disease for the presence of the ND2 mutation, and have not been able to confirm these findings. We believe that this mutation is not specifically associated with Alzheimer's disease, but rather, is a neutral polymorphism present in the population.

Publication types

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

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics*
  • Base Sequence
  • Brain / physiopathology
  • DNA / genetics
  • DNA / isolation & purification
  • DNA, Mitochondrial / genetics*
  • Female
  • Genome, Human*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed
  • Mutation*
  • Oligodeoxyribonucleotides
  • Polymerase Chain Reaction / methods
  • Polymorphism, Restriction Fragment Length
  • Restriction Mapping


  • DNA, Mitochondrial
  • Oligodeoxyribonucleotides
  • DNA