In silico Characterization of Predominant Genes Involved in Early Onset of Alzheimer's Disease

Abstract

Objective: Alzheimer's disease (AD) is a predominant neurodegenerative disorder and one of the most prevalent forms of dementia, affecting 35 million people worldwide. The neuropathologic characteristics of this disorder show extracellular aggregation of amyloid plaques composed of amyloid-beta (Aβ) peptides and the presence of hyperphosphorylated tau protein leading to the formation of neurofibrillary tangle inside the neurons. Some of the significant clinical presentations of AD patients include memory decline, trouble in speech, personality alterations, gait imbalance, and mood changes. A tremendous core of genetics is involved in the prevalence of AD. The three vital genes such as amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) have a definite association with AD. The objective of this study was to characterize these genes, which are immensely relevant in health-care practices and the formation of personalized medications. Materials and Methods: The characterization of genes has been done using several databases such as the National Center for Biotechnology Information, GeneCards, Human Protein Atlas, tissue expression database, and protein modeling server – Swiss-model. Results: As a result, we got the genomic and subcellular location of genes. Furthermore, we got the expression concentration of proteins in tissues, three-dimensional protein structures using amino acid sequences, string connection with various proteins, features of genes, and the protein encoded by it. Conclusion: We reach the conclusion that protein expression of APP is high in the brain, spinal canal, liver, lungs, and small and large intestine. PSEN1 concentration of expression is high in the brain and spinal, whereas PSEN2 concentration of expression is high in the liver, lungs, brain, and intestine.