Analysis of early onset of Alzheimer's disease genes: disease causing and risk factors

Abstract

Alzheimer's disease is on the rise around the globe and is ranked sixth in the United States as the leading cause of death. It is a progressive neurodegenerative disease and the main causes of dementia. It is often characterized by symptoms such as lack of memory, agitation, restlessness, changes in personality, inability to perform everyday tasks, and impairment of speech. There are two forms of Alzheimer's disease: early onset of Alzheimer's disease occurring before 65 years of age, manifesting in 5-10% of the population, and late-onset of Alzheimer's disease manifesting after 65 years of age. In this study, the role of single nucleotide polymorphism in Alzheimer's disease using genome-wide association studies was investigated. Further, mutations underlying early onset of Alzheimer's disease were analyzed and it was found that mutations in the six genes APP, PSEN1, PSEN2, MAPT, GRN and PRNP resulted in the structural and functional protein modifications. These altered amino acids in early onset of Alzheimer's disease contribute to its pathogenesis. A single change in these genes is inherited in an autosomal dominant manner and might lead to early onset of Alzheimer's disease, however sporadic cases have also been identified. DOI: http://dx.doi.org/10.5281/zenodo.4641962

Keywords

• Alzheimer's disease
• Single nucleotide polymorphism
• EOAD
• Amyloid
• Tau