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. 2013 May-Jun;7(3):244-7.
doi: 10.4161/pri.23903. Epub 2013 Feb 13.

The prion protein M129V polymorphism: longevity and cognitive impairment among Polish centenarians

Ewa Golanska  1 , Monika Sieruta, Elizabeth Corder, Sylwia M Gresner, Anna Pfeffer, Malgorzata Chodakowska-Zebrowska, Tomasz M Sobow, Izabela Klich, Malgorzata Mossakowska, Aleksandra Szybinska, Maria Barcikowska, Pawel P Liberski
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The prion protein M129V polymorphism: longevity and cognitive impairment among Polish centenarians

Ewa Golanska et al. Prion. 2013 May-Jun.

Abstract

The PRNP gene encodes the cellular isoform of prion protein (PrP (c) ). The M129V polymorphism influences the risk of prion diseases and may modulate the rate of neurodegeneration with age. We present the first study of the polymorphism among Polish centenarians. In the control group (n = 165, ages 18 to 56 years) the observed M129V genotype frequencies agreed with those expected according to the Hardy-Weinberg equilibrium (MM, MV, VV): 43%, 44%, 13% (HWE p > 0.05). Among centenarians (n = 150, ages 100 to 107) both homozygotes were more common than expected and HWE was rejected: 46%, 37%, 17% (expected 42%, 46%, 13%; HWE p = 0.025). This finding is consistent with a higher mortality rate among heterozygotes. However, the observed allele and genotype frequencies did not differ significantly between the oldest-old and the young controls. The genotypic frequencies were not related to severe cognitive impairment among the centenarians.

Keywords: M129V; PRNP; centenarians; codon 129 polymorphism; cognitive impairment; genetic epidemiology; longevity; selective mortality.

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