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CC BY 4.0 · Glob Med Genet 2024; 11(01): 001-012
DOI: 10.1055/s-0043-1777849
Original Article

Orchestration of Genetic Alterations in PSEN1 and PSEN2 Genes in Development of Alzheimer's Disease through Computational Analysis

Asif Mir
1   Department of Biological Sciences, FBAS, International Islamic University, Islamabad, Pakistan
,
Zainab Kamran
1   Department of Biological Sciences, FBAS, International Islamic University, Islamabad, Pakistan
,
Wajid Iqbal
1   Department of Biological Sciences, FBAS, International Islamic University, Islamabad, Pakistan
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Abstract

Dementia is a syndrome that can cause a number of progressive illnesses that affect memory, thinking, and ability to perform everyday tasks. Alzheimer's disease (AD) is the most common cause of dementia and represents a major public health problem. AD is a progressive disease, where in early stages there is mild memory loss and in late-stage patient loses the ability to carry on a conversation. AD (for which there is no exact cause and cure known so far) is the sixth leading cause of deaths in the United States. Every 68 second someone develops AD. This study focuses on protein structure modeling of genes presenilin 1 and 2 (PSEN1 and PSEN2) and their mutated forms (Asn141Tyr found in Chinese family, Gly34Ser identified in a Japanese patient, and Arg62Cys & Val214Leu identified in the Korean patients). It also involves wild and mutant type comparison, protein interaction studies, docking and phylogenetic history based on representative ortholog species and also sheds insight into the comparative evolutionary rates of coding sequence across various orthologs. This study gives a time and cost-effective analysis of genes (PSEN1 and PSEN2) underlying AD and genetic alterations that drive development and causes of disease.

Keywords

dementia - PSEN1 and PSEN2 - mutational analysis - docking - phylogenetic history


Publication History

Article published online:
09 January 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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