No association found between Alzheimer's disease and a mitochondrial tRNA glutamine gene variant

Michelle A. Wragg, Christopher J. Talbot, John C. Morris, Corinne L. Lendon, Alison M. Goate

Research output: Contribution to journalArticlepeer-review

45 Scopus citations

Abstract

We have screened a large sample of patients with sporadic late-onset dementia of the Alzheimer type (DAT) and age-matched controls for a mitochondrial tRNAGln variant previously reported to be associated with increased risk of developing Alzheimer's disease (AD). The frequency of an Ava II site gain was determined by restriction analysis of a PCR-amplified mitochondrial DNA product. One of 155 DAT cases and four of 105 age-matched controls carried the variant. Both the affected and control frequencies are statistically different from those previously reported. The mitochondrial lineage of those individuals harboring the variant was determined by sequencing a short region of the hypervariable mitochondrial D-loop. The affected individual and three of the four controls carrying the Ava II variant belong to the same mitochondrial lineage previously reported to be associated with AD.

Original languageEnglish
Pages (from-to)107-110
Number of pages4
JournalNeuroscience Letters
Volume201
Issue number2
DOIs
StatePublished - Dec 8 1995

Keywords

  • Alzheimer's disease
  • Ava II variant
  • Mitochondrial DNA
  • Mitochondrial lineage
  • Oxidative phosphorylation
  • tRNA gene

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