Release Date: 2024-05-28

Genetic Research in Alzheimer’s Disease

Zehra Oya Uyguner (Author), Fatih Tepgec (Author)

Release Date: 2024-05-28

Alzheimer’s Disease is classified by age of onset: early-onset (EOAD) before 60-65 years, comprising 5-10% of cases, and late-onset (LOAD) after 60-65 years, accounting for 95%. Familial AD, resulting from single gene mutations, represents a small percentage, with most cases being sporadic and multifactorial. Advancements in Next-Generation Sequencing (NGS) have enabled the identification of numerous [...]

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    Work TypeBook Chapter
    Published inAlzheimer’s Disease From Molecular Mechanisms to Clinical Practices
    First Page175
    Last Page187
    DOIhttps://doi.org/10.69860/nobel.9786053359166.8
    LanguageENG
    Page Count13
    Copyright HolderNobel Tıp Kitabevleri
    Licensehttps://nobelpub.com/publish-with-us/copyright-and-licensing

    Alzheimer’s Disease is classified by age of onset: early-onset (EOAD) before 60-65 years, comprising 5-10% of cases, and late-onset (LOAD) after 60-65 years, accounting for 95%. Familial AD, resulting from single gene mutations, represents a small percentage, with most cases being sporadic and multifactorial. Advancements in Next-Generation Sequencing (NGS) have enabled the identification of numerous genetic variants associated with AD. Early discoveries identified genes such as amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) as monogenic causes of EOAD. Pathogenic variants in these genes are found in about 10-15% of EOAD cases, with PSEN1 variants being the most common. The APOE gene, particularly the ε4 allele, is the strongest genetic risk factor for sporadic LOAD. Individuals with one or two copies of the ε4 allele have a significantly increased risk of developing AD, with a higher risk and earlier onset in homozygotes. Other susceptibility genes identified through genome-wide association studies (GWAS) and whole genome sequencing (WGS) include TREM2, SORL1, ABCA7, and ADAM10.

    Zehra Oya Uyguner (Author)
    Professor, Istanbul Cerrahpasa University
    https://orcid.org/0000-0002-2035-4338
    3Zehra Oya UYGUNER, PhD. Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University Zehra Oya Uyguner completed her Bachelor’s degree in Biochemistry in 1983 and Master’s degree in Chemistry in 1985 from Oakland University (Rochester, Michigan, USA). Her Master’s thesis involved cloning a gene suppressed by androgens in mice, published in the Journal of Biological Chemistry in 1987. She earned her PhD in Biochemistry from Marmara University Institute of Health Sciences in 1989, focusing on detecting pathogenic variants in the HBB gene of Beta Thalassemia patients, honored by the Hematology Society Award in 1991. She conducted postdoctoral research on in-vitro foot printing technique at the University of Texas Health Science Center (San Antonio, Texas, USA) from 1990 to 1991. In 1997, she joined Istanbul University, Institute of Child Health, Department of Pediatric Basic Sciences as a Research Assistant in Medical Genetics. She became an Associate Professor in the Department of Medical Genetics at Istanbul Faculty of Medicine in 2005, and has been a Professor since 2012, currently serving as the Head of the Department of Medical Genetics since 2022. She shares responsibility for the Molecular Genetics Laboratory and has been actively involved as principal investigator and researcher in various national and international projects spanning genetic diseases from fetal development to neurodegenerative conditions in advanced age. Zehra Oya Uyguner has authored articles and book chapters in her field. According to Web of Science, she has 163 publications with a total of 1519 citations, resulting in an H-index of 21

    Fatih Tepgec (Author)
    Altınbaş University
    https://orcid.org/0000-0001-8413-6949
    3Fatih Tepgeç, PhD. Fatih Tepgeç graduated from Istanbul University Cerrahpaşa Faculty of Medicine, Department of Medical Biological Sciences in 2008. He completed his master’s degree in the Department of Genetics at Istanbul University - ASDETAE in 2011 with his thesis titled ""Association between TAF8, APOD and sporadic Alzheimer disease in the Turkish population."" He completed his PhD in Genetics at Istanbul University Institute of Health Sciences in 2018 with his thesis titled ""Investigation of related mutations in known and candidate genes causing Parkinson’s disease."" He has been working at Altınbaş University since 2020. His main research areas are neurodegenerative diseases genetics and ancient DNA.

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