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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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CREB3 gain of function variants protect against ALS.

Salim Megat¹, Christine Marques², Marina Hernán-Godoy²

¹Université de Strasbourg, Inserm, Strasbourg Translational Neuroscience and Psychiatry, Inserm UMR-S 1329, Centre de Recherche en Biomédecine de Strasbourg, Strasbourg, France. salim.megat@inserm.fr.

Nature Communications

|March 27, 2025

Summary

Amyotrophic lateral sclerosis (ALS) research reveals the transcription factor CREB3 as a resilience marker. A rare CREB3 variant (CREB3R119G) may decrease ALS risk and slow disease progression.

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Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by motor neuron loss.
Understanding the molecular mechanisms underlying ALS pathogenesis is crucial for developing effective therapies.

Purpose of the Study:

To identify molecular markers associated with resilience in corticospinal neurons (CSN) in ALS.
To investigate the role of the transcription factor CREB3 and its variants in ALS.
To explore the therapeutic potential of CREB3 in ALS.

Main Methods:

Comparative cross-species transcriptomics of CSN using snRNA-seq data from human postmortem tissues.
Longitudinal RNA-seq on purified CSN from Sod1G86R mouse models.
Genetic and epidemiologic analyses of ALS patients.
Gain-of-function studies of the CREB3R119G variant.

Main Results:

CSN in ALS exhibit endoplasmic reticulum (ER) stress and altered mRNA translation.
The transcription factor CREB3 and its network are identified as resilience markers across various cell types in ALS.
A rare variant, CREB3R119G (rs11538707), acts as a positive disease modifier in ALS.
Gain of function for CREB3R119G reduces ALS risk and slows motor progression in patients.

Conclusions:

CREB3 is a key molecular player in neuronal resilience against ALS.
The CREB3R119G variant demonstrates potential as a protective factor against ALS development and progression.
Targeting the CREB3 pathway may offer a novel therapeutic strategy for ALS.