Genetic study of familial cases of Alzheimer's disease

• Autorzy: Kowalska A. , Pruchnik-Wolinska D. , Florczak J. , Modestowicz R. , Szczech J. , Kozubski W. , Rossa G. , Wender M.
• Języki publikacji: EN

Abstrakty

EN

A small number (1-5%) of Alzheimer's disease (AD) cases associated with the early-onset form of the disease (EOAD) appears to be transmitted as a pure genetic, autosomal dominant trait. To date, three genes responsible for familial EOAD have been identified in the human genome: amyloid precursor protein (APP), presenilin 1 (PS1), and presenilin 2 (PS2). Mutations in these genes account for a significant frac­tion (18 to 50%) of familial cases of early onset AD. The mutations affect APP pro­cessing causing increased production of the toxic Aβ42 peptide. According to the "amyloid cascade hypothesis", aggregation of the Aβ42 peptide in brain is a primary event in AD pathogenesis. In our study of twenty AD patients with a positive family history of dementia, 15% (3 of 20) of the cases could be explained by coding sequence mutations in the PS1 gene. Although a frequency of PS1 mutations is less than 2% in the whole population of AD patients, their detection has a significant diagnostic value for both genetic counseling and treatment in families with AD.

Słowa kluczowe

EN

human disease; Alzheimer's disease; memory loss; presenilin 1 gene; amyloid precursor protein gene; dementia; mutation; neurodegeneration; presenilin 2 gene; personality change

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2004
• Tom: 51
• Numer: 1
• Opis fizyczny: p.245-252,fig.,ref.

Twórcy

autor

Kowalska A.

• Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland

autor

Pruchnik-Wolinska D.

autor

Florczak J.

autor

Modestowicz R.

autor

Szczech J.

autor

Kozubski W.

autor

Rossa G.

autor

Wender M.

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