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  Abstracts: Investigations on the point mutations at nt5460 of the mtDNA in different neurodegenerative and neuromuscular diseases  
  September 06, 1995



B. Janetzky(1), C. Schmid(1) , P. Riederer(2) and H. Reichmann(1)
Departments of (1) Neurology and (2) Psychiatry, University of Würzburg, Germany  

2nd Workshop Neurogenetics in Germany, Munich, October 19-21, 1995

Point mutations of the mitochondrial genome are often considered to be the cause of certain neurodegenerative disorders and mitochondrial myopathies. Recently there had been a report on point mutations at position 5460 of the mitochondrial genome located within the ND2 gene, a subunit of the NADH-ubiquinone-oxidoreductase, in 10 out of 19 post mortem brain samples of patients with Alzheimer's disease (AD). Using allele specific PCR with a sensitivity of detection of less than 1% mutated mtDNA, we investigated post mortem brain samples from 48 patients with AD and blood samples of 15 patients with clinically diagnosed AD. In addition, we investigated tissue samples of patients with different neuromuscular disorders and patients with Downs syndrome. Independent of the tissue analysed up to 20% of all the tested samples of patients showed a point mutation at nt 5460 with a base substitution from G to A. 19 brain samples and 48 blood samples from persons without such disorders served as controls. With exception of two samples all controls lacked this mutation. The G to T transversion was not found in any of the so far tested samples. Our results do not support previously reported high frequency of these mutations in AD, thus a co-factor in several disease processes or a polymorphism seems more probable.


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