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Selection of Aptamers for Amyloid β-Protein, the Causative Agent of Alzheimer's Disease
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Selection of Aptamers for Amyloid β-Protein, the Causative Agent of Alzheimer's Disease

Published on: May 13, 2010

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Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease

Nadia El Kadmiri1, Nabil Zaid, Ahmed Hachem

  • 1Laboratory 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.

Journal of Molecular Neuroscience : MN
|March 15, 2014
PubMed

Insights

Researchers investigated the amyloid precursor protein (APP) gene in Moroccan Alzheimer's disease (AD) patients. Novel mutations were found, suggesting APP gene variations may serve as genetic markers for AD predisposition.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Alzheimer's disease (AD) poses a significant health challenge in Morocco, with projections indicating a substantial increase in cases.
  • Identifying genetic factors influencing AD predisposition and incidence is crucial for understanding disease mechanisms and developing predictive tools.

Purpose of the Study:

  • To investigate the genetic contribution of mutations in exons 16 and 17 of the amyloid precursor protein (APP) gene in Moroccan patients with familial and sporadic Alzheimer's disease.
  • To explore potential genetic markers for AD predisposition within the Moroccan population.

Main Methods:

  • Recruitment of 17 sporadic and 8 familial AD cases from the University of Casablanca Neurology Department.
  • Comprehensive clinical evaluation including neurological examination, cognitive assessment, brain imaging, and laboratory tests.
  • Direct sequencing of exons 16 and 17 of the APP gene in the genomic DNA of AD patients.

Main Results:

  • Identification of seven novel frameshift mutations in exons 16 and 17 of the APP gene.
  • Detection of one novel splice mutation in a familial AD case.
  • Establishment of a strong correlation between clinical symptoms and genetic factors in Moroccan AD patients with a family history.

Conclusions:

  • Mutations in APP gene exons 16 and 17 are implicated in Alzheimer's disease pathogenesis in the Moroccan population.
  • These APP gene mutations may serve as valuable genetic markers for predicting AD predisposition.
  • Further research is warranted to elucidate the full spectrum of genetic contributions to AD in Morocco.

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