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FRIGERIO, Carlo Sala; PISCOPO, Paola; PIRAS, Rita; FORLONI, Gianluigi; CONFALONI, Annamaria; CALABRESE, Elena; CRESTINI, Alessio; MALVEZZI, Lorenzo; DI FAVA, Campeggi Rita; FOGLIARINO, Sergio; ALBANI, Diego; MARCON, Gabriella; CHERCHI, Rosella
Journal of neurology, 09/2005, Letnik: 252, Številka: 9Journal Article
Genetic evidence indicates a central role of cerebral accumulation of beta-amyloid (Abeta) in the pathogenesis of Alzheimer's disease (AD). Beside presenilin 1 and 2, three other recently discovered proteins (Aph 1, PEN 2 and nicastrin) are associated with gamma-secretase activity, the enzymatic complex generating Abeta. Alterations in genes encoding these proteins were candidates for a role in AD. The PEN 2 gene was examined for unknown mutations and polymorphisms in sporadic and familial Alzheimer patients. Samples from age-matched controls (n=253), sporadic AD (SAD, n=256) and familial AD (FAD, n=140) were screened with DHPLC methodology followed by sequencing. Scanning the gene identified for the first time a missense mutation (D90N) in a patient with FAD. Three intronic polymorphisms were also identified, one of which had a higher presence of the mutated allele in AD subjects carrying the allele epsilon4 of apolipoprotein E than controls. The pathogenic role of the PEN-2 D90N mutation in AD is not clear, but the findings might lead to new studies on its functional and genetic role.
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