Date of Award
10-31-2022
Degree Type
Thesis
Degree Name
MPhil in Biological and Biomedical Sciences
First Advisor
Dr. Bushra Amin
Second Advisor
Dr. Sadia Fatima
Third Advisor
Dr. Muhammad Wasay
Department
Biological and Biomedical Sciences
Abstract
Alzheimer’s disease (AD) is the most common cause of neurodegenerative dementia. It begins about two decades before the symptoms appear. Accumulation of amyloid-beta and formation of neurofibrillary tau tangles are the most frequent observations in AD brain. Stress, unhealthy lifestyle, aging, and apolipoprotein E (APOE) alleles particularly ε4 are amongst the greatest risk factors for non-familial AD. APOE ε4 contributes to AD pathology by preventing Aβ clearance, and NFTs deterioration, and disrupt blood brain barrier. The aim of our study was to develop a protocol for the identification of dominant APOE alleles in Pakistan population and to identify trend of mutation profile in APOE gene. After ethical approval and informed consents, mild to moderate Alzheimer's patients (N=12) against age & gender-matched cognitively healthy subjects (N=7) were recruited from out-patient Neurology clinics and the general population visiting AKU. The Mini Mental State Examination (MMSE) was performed by the expert neurologists. Family history and comorbid data were recorded along with basic demographics. DNA was isolated from buffy coat using Kit based method. Primer's design and sequence of human APOE genes were taken from the NCBI database. Gene amplification was performed by PCR using Promega GoTaq® Green Master Mix in thermal cycler. Amplified products were sequenced by ©Macrogen, Inc. (Korea). Interestingly, our data showed no mutation of APOE gene in both case and control group. Sequence data demonstrated APOE gene by using NCBI blast tool. Baseline was compared between groups for frequency analysis using SPSS version 23. Results of the demographic showed male AD patients were more than female. BP was the most commonly found comorbidity among AD group. Significant difference between MMSE score of AD group and control. No significant difference found between the age of onset and age of diagnosis among AD group.
First Page
1
Last Page
93
Recommended Citation
Aiman, R.
(2022). Identification of Alzheimer’s disease related highly susceptible gene mutation in Pakistani population: A pilot study. , 1-93.
Available at:
https://ecommons.aku.edu/etd_pk_mc_mphil-bbs/17