Characterizing the Adenine-to-Guanine Mutation on the APP Gene

Summary

This project investigates how a specific adenine-to-guanine mutation affects the Amyloid Precursor Protein (APP) and its role in Alzheimer's disease (AD). The APP gene, located on Chromosome 21, is critical for protein processing and plays a key role in AD pathology when mutated. Using bioinformatics tools such as MutationTaster, DynaMut, I-Mutant, and SWISS-MODEL, the study identifies that this mutation causes an amino acid substitution, replacing valine with isoleucine at position 717. Structural analysis revealed increased hydrophobicity in the mutated APP protein, which may enhance interactions with other hydrophobic molecules and promote the aggregation of amyloid-beta (Aβ) plaques—a hallmark of AD. Despite these changes, Ramachandran plot analysis indicates no significant disruption in the overall structure or function of the APP protein.

The mutated and wildtype structures for the APP protein. (Source)

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By: Arjun Gupta. The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of Elio Academy.

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