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Bio Summit & Molecular Biology 2016
October 10-12, 2016
Volume 6, Issue 6(Suppl) J Biotechnol Biomater
ISSN: 2155-952X JBTBM, an open access journal
conferenceseries .com
October 10-12, 2016 Dubai, UAE
2nd World Congress on
Bio Summit & Molecular Biology Expo
Fadia El Bitar et al., J Biotechnol Biomater 2016, 6:6(Suppl)
Molecular research on Alzheimer’s disease of Saudi patients and its applications
Fadia El Bitar1, Najeeb Qadi1, Saad Al Rajeh2, Futwan Al Mohanna 1, Sara Abdulaziz1, Nada Majrashi1, Maznah Al Inizi1, Samah Qassim1, AsmaTaher and
Nada Al-Tassan1
1King Faisal Specialist Hospital and Research Center, Saudi Arabia
2Al Habib Medical Center, Saudi Arabia
Introduction & Aim: Alzheimer’s disease (AD) is the most common form of dementia and neurodegeneration. Cerebral
atrophy, beta amyloid aggregation and intra-neuronal neurofibrillary tangles are associated with AD. Although AD is largely
sporadic occurring in the elderly, a minority of cases belongs to early onset form that appears before age of 65 and is genetically
inherited. As little is known on the background of AD in Saudi population, we established research on the genetic basis of AD
in Saudi patients and initiated in vitro cellular model derived from the patients that is applicable for drug discovery.
Method: To find out the genetic cause of Alzheimer’s disease in Saudi patients, we recruited 100 AD belonging to familial and
sporadic cases and screened themby direct sequencing for possible pathogenic mutations in AD related genes. 76 representative
samples were examined for copy number of variants. Modeling of the disease was studied by direct conversion of human
fibroblasts to neurons using our novel combination of chemical molecules to be applicable on fibroblasts issued from Saudi
patients genetically inherited AD.
Results: We found 2 out of 24 novel variants to be potentially pathogenic mutations in exons 23 and 26 of SORL1 gene.
We got out of 72 known variants, probably damaging mutations in the following genes: SORL1 exon11 (c1582; A528T);
APOEe4 exon4.1 (c487; R163C) and APOEe4 exon4.2 (c526; R176C). Certain index cases displayed loss of heterozygosity on
chromosomal regions that include genes causing Alzheimer’s disease. We identified small-molecule cocktails that converted
fibroblasts into neurons without exogenous genetic factors.
Conclusion: The outcome of this study is providing data bases for mutations of AD and favoring in the near future the Saudi
patients to benefit from personalized treatments.
Biography
Fadia El Bitar is currently working in Department of Genetics, King Faisal Specialist Hospital and Research Center, Saudi Arabia.