Evaluating Mitochondrial Mutations in Patients with Alzheimer's Disease
Author: Arjun Muralidharan (biological sciences)
Faculty mentor: Weilong Hao
Alzheimer's disease is one of the most prevalent neurodegenerative diseases; however, the genetic causes, such as specific mutations or an accumulation of mutations, still evade the scientific community's consensus. The mitochondria are essential in producing energy through oxidative phosphorylation, and so in this study, the mitochondria' mutations are examined. So dysfunction will lead to energy-related problems, abnormal functioning of neuronal cells, improper regulation of damaging molecules, and oxidative stress; thus, studying mutations found in the mitochondria is essential. Data was collected from the Alzheimer's Disease Neuroimaging Initiative and National Center of Biotechnology Information to determine if significant mutations are found in patients with cognitive impairment. The mitochondrial sequences were mapped to the human reference mitochondrion (NC_012920.1), and annotations were extracted for analysis. The mutations were analyzed through machine learning algorithms to determine the mutations' classification to either the control or patient group. In the H haplogroup, there was a separation between the two groups; however, when further examined in the sub-haplogroups, only one, H4, showed separation. The others had the clustering of patient and control groups together. The data collection process, different alignment methods, or smaller sample size could explain the separation; however, the study aimed to create a method for predicting whether an unknown person belongs in the control or patient group by examining their mitochondrial mutations.
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Arjun Muralidharan: Evaluating Mitochondrial Mutations in Patients with Alzheimer's Disease