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Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

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Published on: May 16, 2017

A Gut Feeling about C9ORF72.

Magdalini Polymenidou¹

¹Department of Quantitative Biomedicine, University of Zurich, Zurich, Switzerland.

Trends in Immunology

|August 18, 2020

Summary

Genetic mutations in C9ORF72 cause ALS and FTD, leading to neuroinflammation. This study reveals that the gut microbiome directly influences C9ORF72-associated inflammation and premature death in mice.

Area of Science:

Neuroscience
Genetics
Immunology

Background:

C9ORF72 mutations are the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
These mutations disrupt C9ORF72 function, resulting in neurodegeneration and inflammatory diseases observed in patients and mouse models.

Purpose of the Study:

To investigate the role of the gut microbiome in C9ORF72-associated pathology.
To determine if modulating the gut microbiome can impact inflammation and survival in a mouse model of C9ORF72 deficiency.

Main Methods:

Utilized a mouse model with a knockout of the C9ORF72 gene.
Administered antibiotics to deplete the gut microbiome.
Assessed levels of inflammation and survival rates in treated and control mice.

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Main Results:

Depletion of the gut microbiome significantly reduced systemic inflammation in C9ORF72 knockout mice.
Antibiotic treatment led to a marked increase in the lifespan of these mice.
These findings indicate a direct link between the gut microbiome and C9ORF72-mediated disease progression.

Conclusions:

The gut microbiome plays a critical role in exacerbating C9ORF72-associated inflammation and premature mortality.
Targeting the gut microbiome represents a potential therapeutic strategy for C9ORF72-related neurodegenerative and inflammatory diseases.