title: Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease.
abstract: In Morocco, Alzheimer's disease (AD) affects almost 30,000 individuals, and this number could increase to 75,000 by 2020. To our knowledge, the genes predisposing individuals to AD and predicting disease incidence remain elusive. In this study, we aimed to evaluate the genetic contribution of mutations in the amyloid precursor protein (APP) gene exons 16 and 17 to familial and sporadic AD cases. Seventeen sporadic cases and eight family cases were seen at the memory clinic of the University of Casablanca Neurology Department. These patients underwent standard somatic neurological examination, cognitive function assessment, brain imaging, and laboratory tests. Direct sequencing of exons 16 and 17 of the APP gene was performed on genomic DNA of AD patients. In this original Moroccan study, we identified seven novel frameshift mutations in exons 16 and 17 of the APP gene. Interestingly, only one novel splice mutation was detected in a family case. There is a strong correlation between clinical symptoms and genetic factors in Moroccan patients with a family history of AD. Therefore, mutations in APP gene exons 16 and 17 may eventually become genetic markers for AD predisposition.
authors.affiliation: Laboratory of Medical Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy, University Hassan II, 19 Rue Tarik Ibnou Ziad, B.P. 9154, 20000, Casablanca, Morocco, elkadmiri1979@gmail.com.
authors.forename: Nadia
authors.initials: N
authors.lastname: El Kadmiri
authors.forename: Nabil
authors.initials: N
authors.lastname: Zaid
authors.forename: Ahmed
authors.initials: A
authors.lastname: Hachem
authors.forename: Younes
authors.initials: Y
authors.lastname: Zaid
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Dubé
authors.forename: Khalil
authors.initials: K
authors.lastname: Hamzi
authors.forename: Bouchra
authors.initials: B
authors.lastname: El Moutawakil
authors.forename: Ilham
authors.initials: I
authors.lastname: Slassi
authors.forename: Sellama
authors.initials: S
authors.lastname: Nadifi
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D016022:Case-Control Studies; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009018:Morocco; D010375:Pedigree
chemical_list: C545487:APP protein, human; D016564:Amyloid beta-Protein Precursor