Role of Mitochondrial Mutations in Ocular Aggregopathy

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2022 Aug 25

PMID 36004037

Authors

Munmun Chakraborty

Aparna Rao

Kuldeep Mohanty

Affiliations

Soon will be listed here.

Abstract

Background Mitochondria are essential cellular organelles that are responsible for oxidative stress-induced damage in age-dependent neurodegenerations such as glaucoma. Previous studies have linked mitochondrial DNA (mtDNA) mutations to cellular energy shortages that result in eye degeneration. Methodology To look for nucleotide variations in mtDNA in exfoliation syndrome/glaucoma (XFS/XFG), we performed a polymerase chain reaction (PCR) to amplify the entire coding region of the mitochondrial genome from peripheral blood of XFS/XFG (n = 25) patients and controls (n = 25). Results This study identified a total of 65 variations in XFS/XFG patients, of which 25 (38%) variations were non-synonymous single-nucleotide polymorphism (nsSNPs). Out of 25 nsSNPs, seven (five nsSNP in and two in gene) were predicted as pathogenic using four different software, namely, SIFT, Polyphene2, mutation taster, and MutPred2. The pathogenic nsSNPs were then subjected to structural change analysis using online tools. Conclusions The pathogenic nsSNPs were found in both proteins' transmembrane domains and were expected to be conserved, but with lower protein stability (ΔΔG <- 0.5), indicating a possibly harmful effect in exfoliation. However, three-dimensional protein analysis indicated that the predicted mutations in and were unlikely to alter the protein function.

Citing Articles

Exploring the Structural and Functional Consequences of Deleterious Missense Nonsynonymous SNPs in the Gene: A Computational Approach.

Ali E, Adam K, Elangeeb M, Ahmed E, Abuagla H, MohamedAhmed A J Pers Med. 2024; 14(11).

PMID: 39590603 PMC: 11595312. DOI: 10.3390/jpm14111111.

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