# har-1/CHCHD10 mutations induce neurodegeneration and mitochondrial fragmentation in Caenorhabditis elegans

## TL;DR

This paper shows that mutations in the har-1 gene in C. elegans lead to neurodegeneration and mitochondrial issues, similar to human diseases like ALS and FTD.

## Contribution

The study introduces C. elegans har-1 mutants as a model for studying CHCHD10-related neurodegenerative diseases.

## Key findings

- har-1 mutant strains show progressive paralysis and GABAergic motor neuron degeneration.
- Both har-1 mutants exhibit mitochondrial fragmentation.
- These mutants may help investigate disease mechanisms and therapies.

## Abstract

CHCHD10
encodes a mitochondrial protein that plays a role in cristae morphology and oxidative phosphorylation, with mutations associated with neurodegenerative diseases, including the spectrum of amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD). The

Caenorhabditis elegans

ortholog of
CHCHD10
is

har-1

, which can be used to model CHCHD10-related neurodegenerative diseases. We focused on two

har-1

mutant strains: one featuring a 260 bp deletion (

gk3124

) and the other with a G73E point mutation (

ad2155

). Both

har-1

mutants displayed progressive paralysis, degeneration of GABAergic motor neurons, and mitochondrial fragmentation. These strains may be valuable tools for investigating pathogenic mechanisms and therapeutic strategies for neurodegenerative diseases.