- Tytuł:
- Genetic study of familial cases of Alzheimers disease.
- Autorzy:
-
Kowalska, Anna
Pruchnik-Wolińska, Danuta
Florczak, Jolanta
Modestowicz, Renata
Szczech, Józef
Kozubski, Wojciech
Rossa, Grzegorz
Wender, Mieczysław - Powiązania:
- https://bibliotekanauki.pl/articles/1043353.pdf
- Data publikacji:
- 2004
- Wydawca:
- Polskie Towarzystwo Biochemiczne
- Tematy:
-
neurodegeneration
dementia
presenilin 1 gene
amyloid precursor protein gene
Alzheimer's disease
mutation
presenilin 2 gene - Opis:
- 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.
- Źródło:
-
Acta Biochimica Polonica; 2004, 51, 1; 245-242
0001-527X - Pojawia się w:
- Acta Biochimica Polonica
- Dostawca treści:
- Biblioteka Nauki
Artykuł