1. SORL1 Variants in Familial Alzheimer's Disease.
- Author
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Gómez-Tortosa, Estrella, Ruggiero, María, Sainz, Ma José, Villarejo-Galende, Alberto, Prieto-Jurczynska, Cristina, Venegas Perez, Begoña, Ordas, Carlos, Agüero, Pablo, Guerrero-Lopez, Rosa, Perez-Perez, Julian, Venegas Pérez, Begoña, Ordás, Carlos, Guerrero-López, Rosa, and Pérez-Pérez, Julián
- Subjects
GENETICS of Alzheimer's disease ,ALZHEIMER'S patients ,PATHOLOGICAL physiology ,ALZHEIMER'S disease diagnosis ,PATHOGENIC microorganisms ,GENETIC mutation ,ALZHEIMER'S disease ,SIBLINGS ,COMPARATIVE studies ,DISEASE susceptibility ,GENES ,GENETIC polymorphisms ,RESEARCH methodology ,MEDICAL cooperation ,PROTEINS ,RESEARCH ,EVALUATION research ,CASE-control method ,MEMBRANE transport proteins - Abstract
The SORL1 gene encodes a protein involved in the amyloidogenic process, and its variants have been associated with Alzheimer's disease (AD) physiopathology. We screened for SORL1 variants in 124 familial (44 early- and 80 late-onset) dementia of Alzheimer type (DAT) cases. Nine potentially pathogenic changes (three not previously reported and six rare variants) were found in nine probands (7%). After screening the control population and siblings (presence in at least 1/200 controls and/or absence of segregation pattern), a causal relationship with the disease was considered unlikely in six variants and uncertain in one. The change Trp848Ter and a splice-site variant remained likely correlated with the disease. SORL1 mutations are present in 7% of our familial DAT cohort, though in most cases cannot be considered the direct cause of the disease. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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