Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.
Neurobiol Aging
; 36(10): 2904.e9-11, 2015 Oct.
Article
em En
| MEDLINE
| ID: mdl-26145164
ABSTRACT
A minority of Alzheimer disease (AD) patients begin presenting symptoms before the age of 65 years. A familial aggregation is often found in this group of early-onset AD, and, in a subset of families, the pattern of inheritance is consistent with autosomal dominant inheritance. Fully penetrant variants in amyloid precursor protein, presenilin 1 (PSEN1), and presenilin 2 are the only causative mutations reported for autosomal dominant AD. This study is to explore the PSEN1 gene mutation in a Tunisian familial Alzheimer's disease. The patient in this family showed a novel missense mutation in exon 4 of the PSEN1 gene (complementary DNA 248T>C), altering isoleucine to threonine at 83 position. Because the change occurred in conserved domains of this gene, and cosegregated with affected family member, we suggested that this change may have a mutagenic and probably pathogenic effect.
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Base de dados:
MEDLINE
Assunto principal:
Mutação de Sentido Incorreto
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Presenilina-1
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Estudos de Associação Genética
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Doença de Alzheimer
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article