Investigating the Role of Mutant CHCHD10 in ALS Pathogenesis Through Mouse Models

Overview

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that impacts motor neurons, leading to paralysis and death. Recent studies have identified mutations in the CHCHD10 gene as a contributor to ALS and other neurodegenerative diseases such as Parkinson's Disease. This research bridges the gap between genotype and phenotype by investigating how the R15L mutation impacts cellular function, specifically mitochondrial function to understand how and why it leads to ALS. In this project, two groups were studied using mouse models: heterozygous R15L mutant mice and wild -type controls. Skeletal muscle and brain tissues were collected, homogenized, and processed to extract mitochondria for functional analysis. The mitochondri al respiration rates of the tissues were assessed using a respirometer, under various metabolic states, to evaluate differences in mitochondrial function between wild -type and R15L mutant samples. Results indicate that the R15L mutation is associated with a shorter lifespan, reduced mitochondrial respiration, and increased oxidative stress based on the mouse models. This research contributes to a better understanding of how the R15L mutation affects mitochondrial dysfunction in ALS, offering insights into t he disease’s molecular mechanisms. Future directions include exploring potential gene therapy-based therapeutic strategies aimed at slowing or halting ALS progression to improve the quality of life for patients with ALS.

Competition history

• JSHS 2025 Category not listed

Resources

• National JSHS abstract book ↗

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