NR AOTH
AU Golanska,E.; Hulas-Bigoszewska,K.; Styczynska,M.; Peplonska,B.; Bratosiewicz-Wasik,J.; Liberski,P.P.
TI Polymorphisms within the prion (PrP) and prion-like protein (Doppel) genes in AD
QU International Conference - Prion diseases: from basic research to intervention concepts - TSE-Forum, 08.10.-10.10.2003, Gasteig, München - Poster session - DG-12
PT Konferenz-Poster
AB Background: The PRNP codon 129 polymorphism has been shown to influence not only prion diseases, but also cognitive impairment in the elderly. An association of the prion-like protein gene (PRND) polymorphisms with neurodegenerative diseases is unclear. We present a study on the association of PRNP and PRND polymorphisms on the occurrence and age at onset of AD. Methods: DNA from Polish AD patients and healthy controls were studied. Coding sequences of the PRNP and PRND genes were amplified with PCR reaction. The PRND polymorphisms were analyzed by sequencing of the PCR product; the PRNP codon 129 polymorphism was established by restriction analysis. Results: In AD patients the Val/Val and Met/Met homozygotes of the PRNP codon 129 were more frequent than in the controls. A significant difference appeared also between early- (<70 years) and late-onset (>70 years) AD patients in the PRND genotypes. The frequencies of the Thr/Thr and Thr/Met genotypes of the PRND codon 174 were higher in late-onset than in early-onset AD patients; the PRND Thr/Thr26-Pro/Pro56-Met/Met174 genotype was over-represented among early-onset AD patients. Conclusions: The PRNP codon 129 homozygous genotypes seem to be associated with the occurrence of AD. This result supports the hypothesis that the PRNP polymorphism may be of importance not only for prion diseases, but also for cognitive disorders in general. The presence of at least one allele of Thr at PRND codon 174 seems to be a risk for a later-, while the Thr/Thr26-Pro/Pro56-Met/Met174 PRND genotype 8211; for an earlier onset of AD.
AD Ewa Golanska, Krystyna Hulas-Bigoszewska, Pawel P. Liberski, Dept. Mol. Pathol., Med. Univ. Lodz; Maria Styczynska, Beata Peplonska, Dept. Neurodegenerative Disorders, Med. Res. Ctr. Warsaw; Jolanta Bratosiewicz-Wasik, Dept. Virological Diagnosis, Chair of Mol. Biol. Biovchem. Biopharm. Med. Univ. of Silesia, Katowice
SP englisch
PO Deutschland