Investigating unique and recurrent copy number variations in inflammation-related genes in alzheimer's disease and related disorders among Saudi patients

Title : Investigating unique and recurrent copy number variations in inflammation-related genes in alzheimer's disease and related disorders among Saudi patients

Abstract:

Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder and the primary cause of dementia, characterized by declining memory and cognitive function. Research has identified significant genes and risk alleles associated with AD, which shares common inflammatory pathways with related conditions such as Type 2 diabetes, major depressive disorder, hypertension, hyperlipidemia, and dyslipidemia. However, more in-depth molecular research on inflammatory genes relevant to AD and its related disorders in Arab countries, including Saudi Arabia, is needed.

Objectives: This study investigates inflammatory genes in AD and its related disorders by conducting copy number variation (CNV) analysis for chromosomal regions in a cohort of 68 Saudi patients.

Methods: DNA was analyzed using the CytoScan-HD array. Two layers of filtering criteria were applied. All identified CNVs were cross-referenced with the Database of Genomic Variants (DGV).

Results: A total of 189 CNVs, including 102 gains and 87 losses, were identified, containing genes implicated in the inflammatory processes of AD and its related disorders. Notably, the MIR650 gene, associated with the inflammatory processes of AD, was recurrent in the studied cohort, while the FKBP5 gene was unique to a case of late-onset AD (LOAD). The findings highlight the genetic landscape of AD and provide pioneering insights into rare variants within genes linked to the inflammatory cascade of AD and its associated disorders in a cohort of 68 Saudi patients.

Conclusions: This study provides valuable information on the presence of CNVs implicated in the inflammatory processes of AD and its related disorders in Saudi Alzheimer's patients.

Biography:

Dr. Fadia El Bitar is a prominent scientist specializing in genetics and neurodegenerative diseases, particularly Alzheimer's disease. She is currently based at the King Faisal Specialist Hospital and Research Center in Riyadh, Saudi Arabia. Her work focuses on identifying the genetic causes of Alzheimer's disease in Saudi patients and developing in vitro models of the disease by converting patient-derived fibroblasts into neurons. This innovative approach aims to facilitate the discovery of effective drugs to mitigate the toxic effects of amyloid peptides involved in Alzheimer's pathology. Dr. El Bitar holds a PhD in Cellular and Molecular Biology from the National Institute for Science and Health (INSERM) at the University of Auvergne, France, which she obtained in 1999. She also earned a Master's degree in Cellular and Molecular Biology from the University of Blaise-Pascal in 1995, and a Bachelor's degree in Biochemistry from the Lebanese American University in 1991. Her research has made significant contributions to the understanding of Alzheimer's disease, particularly through her exploration of neuroprotective agents that could potentially offer new therapeutic avenues. For instance, her studies on synthetic analogues of curcumin have shown promising results in protecting neuronal cells from amyloid-induced toxicity. Dr. El Bitar's work is supported by notable national and international collaborations and has been recognized through various publications and conference presentations. Her research has also benefited from substantial funding, including a notable grant from the King Abdulaziz City for Science and Technology, highlighting the importance and impact of her contributions to the field of neurogenetics and personalized medicine.