Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease
| Autor: | Taieb Messaoud, Nadia Ben Ali, Nadia Anane, Afef Achouri-Rassas, Riadh Gouider, Aroua Cherif, Nouria Oudiaa Zakraoui, Sondes Hadj Fredj, Slim Chabbi, Meriem Kechaou, Saloua Fray, Samir Belal |
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| Rok vydání: | 2015 |
| Předmět: |
Male
Threonine Aging Tunisia Mutation Missense Biology medicine.disease_cause Presenilin Exon Alzheimer Disease Presenilin-1 medicine PSEN1 Humans Missense mutation Early-onset Alzheimer's disease Isoleucine Gene Genetic Association Studies Aged Genes Dominant Genetics Mutation General Neuroscience Exons Middle Aged medicine.disease Protein Structure Tertiary Female Neurology (clinical) Geriatrics and Gerontology Alzheimer's disease Developmental Biology |
| Zdroj: | Neurobiology of Aging. 36:2904.e9-2904.e11 |
| ISSN: | 0197-4580 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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