Genetic risk factors of Alzheimer’s disease

• Authors: Marzena Skrzypa , Natalia Potocka , Halina Bartosik-Psujek , Izabela Zawlik
• Languages of publication: EN

Abstracts

EN

Introduction. Alzheimer’s disease (AD) is one of the most common neurodegenerative diseases, which is a serious health problem for societies that live longer. Spontaneous dominant mutations and polymorphisms of selected genes play an important role in development of AD. Aim. Several polymorphisms in selected genes strongly associated with development of Alzheimer’s disease were highlighted in this review: APOE, CYP46, APP, PSEN1, PSEN2, UBQLN1, BACE1, PRND, APBB2, TOMM 40. These gene polymorphisms have a significant role in the development of Alzheimer’s disease and they have potential to be biomarkers. Researchers combine efforts to find significant polymorphisms that would ensure that a person is predisposed to the occurrence of disease symptoms. This topic is often taken up by scientists seeking to develop effective genetic tests for diagnosing AD. Material and methods. Analysis of literature from web of knowledge: Web of Science (all database), NCBI and PubMed. Results. We reviewed the selected important genes and polymorphisms which are most often associated with development of AD. Conclusion. It should be noted that nowadays scientists strive not to focus on only one polymorphism in the gene but on several polymorphisms in different genes concomitantly and above all on interactions between them to the diagnosis of this disease. Only this approach to AD will contribute to the creation of appropriate identification methods. Moreover, we should use the new generation tools - the platform for collecting data and personalized medicine.

Keywords

EN

autosomal genetic mutations early-onset Alzheimer Disease genetic polymorphisms; late-onset Alzheimer Disease

• Publisher: Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
• Journal: European Journal of Clinical and Experimental Medicine
• Year: 2019
• Issue: 1
• Pages: 57-66

Contributors

author

Marzena Skrzypa

• Laboratory of Molecular Biology, Centre for Innovative Research in Medical and Natural Sciences, Faculty of Medicine, University of Rzeszow, Rzeszow, Poland

author

Natalia Potocka

• Laboratory of Molecular Biology, Centre for Innovative Research in Medical and Natural Sciences, Faculty of Medicine, University of Rzeszow, Rzeszow, Poland

author

Halina Bartosik-Psujek

• Institution of Experimental and Clinical Medicine, Faculty of Medicine, University of Rzeszow, Rzeszow, Poland
• Clinical Department of Neurology Rzeszow State Hospital No. 2, Rzeszow, Poland

author

Izabela Zawlik

• Laboratory of Molecular Biology, Centre for Innovative Research in Medical and Natural Sciences, Faculty of Medicine, University of Rzeszow, Rzeszow, Poland
• Institution of Experimental and Clinical Medicine, Faculty of Medicine, University of Rzeszow, Rzeszow, Poland

Identifiers

DOI

Introduction. Alzheimer’s disease (AD) is one of the most common neurodegenerative diseases, which is a serious health problem for societies that live longer. Spontaneous dominant mutations and polymorphisms of selected genes play an important role in development of AD. Aim. Several polymorphisms in selected genes strongly associated with development of Alzheimer’s disease were highlighted in this review: APOE, CYP46, APP, PSEN1, PSEN2, UBQLN1, BACE1, PRND, APBB2, TOMM 40. These gene polymorphisms have a significant role in the development of Alzheimer’s disease and they have potential to be biomarkers. Researchers combine efforts to find significant polymorphisms that would ensure that a person is predisposed to the occurrence of disease symptoms. This topic is often taken up by scientists seeking to develop effective genetic tests for diagnosing AD. Material and methods. Analysis of literature from web of knowledge: Web of Science (all database), NCBI and PubMed. Results. We reviewed the selected important genes and polymorphisms which are most often associated with development of AD. Conclusion. It should be noted that nowadays scientists strive not to focus on only one polymorphism in the gene but on several polymorphisms in different genes concomitantly and above all on interactions between them to the diagnosis of this disease. Only this approach to AD will contribute to the creation of appropriate identification methods. Moreover, we should use the new generation tools - the platform for collecting data and personalized medicine