# Neurodegeneration-related genes influence C. elegans pharyngeal activity

**Authors:** Hannah Selvarathinam, Aladin Elkhalil, Walter E. Schargel, Piya Ghose

PMC · DOI: 10.17912/micropub.biology.000897 · 2024-03-13

## TL;DR

This study shows that genes linked to neurodegenerative diseases affect pharyngeal pumping in C. elegans, offering a new way to study these conditions.

## Contribution

The study demonstrates that pharyngeal pumping in C. elegans can reveal distinct genetic effects of neurodegenerative disease-related genes.

## Key findings

- Five neurodegeneration-related gene mutants showed reduced baseline pharyngeal pumping.
- Only atln-1 and ptl-1 mutants showed defects in the touch-induced pumping response linked to schizophrenia.
- Pharyngeal pumping behaviors may represent distinct genetic models for neurodegenerative diseases.

## Abstract

Pharyngeal pumping and its reduction following mechanical insult are well-studied
C. elegans 
behaviors. Here, we assessed new applications of pharyngeal pumping assays in the study of neurodegenerative disease and psychiatric illness. We examined five genes implicated in two forms of neurodegeneration, Hereditary Spastic Paraplegia (HSPs) and Alzheimer’s Disease (AD), for both baseline pharyngeal pumping and the depressive response after touch stimulus. All five mutants showed reduced baseline pumping rate, suggesting a potential utility of this assay to study neurodegenerative disease on a broad scale. However, regarding the induced pumping response, which has been linked to schizophrenia, only specific genes, the HSP-related
atln-1/
Atlastin and the AD-related
ptl-1/
tau, showed defects. Together, we highlight two pharyngeal pumping behaviors as genetically distinct, potentially informative settings for understanding the functions of genes linked to neurodegeneration.

## Linked entities

- **Genes:** atln-1 (GB1/RHD3-type G domain-containing protein) [NCBI Gene 177059], ptl-1 (Microtubule-associated protein) [NCBI Gene 175230]
- **Proteins:** ATL1 (atlastin GTPase 1), MAPT (microtubule associated protein tau)
- **Diseases:** Hereditary Spastic Paraplegia (MONDO:0019064), Alzheimer’s Disease (MONDO:0004975), schizophrenia (MONDO:0005090)

## Full-text entities

- **Genes:** atln-1 (GB1/RHD3-type G domain-containing protein) [NCBI Gene 177059], ptl-1 (Microtubule-associated protein) [NCBI Gene 175230]
- **Diseases:** schizophrenia (MESH:D012559), psychiatric illness (MESH:D001523), HSPs (MESH:D015419), Neurodegeneration (MESH:D019636), depressive (MESH:D003866), AD (MESH:D000544)
- **Species:** C. elegans [taxon 328850]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC10973875/full.md

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Source: https://tomesphere.com/paper/PMC10973875