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
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Comparative Study
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Aged
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Aged, 80 and over
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Alzheimer Disease / genetics*
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Animal Population Groups / genetics
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Animals
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Base Sequence
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Cohort Studies
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DNA Mutational Analysis
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DNA, Mitochondrial / genetics*
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DNA, Ribosomal / genetics*
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Female
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Genetic Variation*
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Humans
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Male
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Middle Aged
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Molecular Sequence Data
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Mutation*
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NADH Dehydrogenase / genetics*
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Nucleic Acid Conformation
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Parkinson Disease / genetics*
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Phylogeny
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Plants / genetics
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Point Mutation
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Polymorphism, Restriction Fragment Length*
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RNA, Ribosomal / genetics*
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RNA, Ribosomal, 16S / genetics*
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RNA, Transfer, Glu / genetics*
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Racial Groups / genetics
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Species Specificity
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White People / genetics
Substances
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DNA, Mitochondrial
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DNA, Ribosomal
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RNA, Ribosomal
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RNA, Ribosomal, 16S
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RNA, Transfer, Glu
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RNA, ribosomal, 12S
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NADH Dehydrogenase