# T cell immunity in a rare juvenile form of motor neuron disease

> **NIH NIH R01** · UNIVERSITY OF CALIFORNIA-IRVINE · 2023 · $659,692

## Abstract

PROJECT SUMMARY
Amyotrophic Lateral Sclerosis (ALS) is the most common form of motor neuron disease (MND).
Several reports have highlighted a link between some disease-causing genes and the immune
system. However, whether and how immune cells contribute to MND in specific forms of ALS is
yet to be defined.
Amyotrophic Lateral Sclerosis 4 (ALS4) is a rare and juvenile MND caused by mutations in the
gene SENATAXIN (SETX), which encodes for a nuclear helicase ubiquitously expressed that our
group identified as a transcriptional regulator of inflammatory response.
By using a mouse model of ALS4, we found that the hematopoietic system contributes to the
neurodegenerative process. Additionally, we discovered that CD8 T cells in the CNS and the
peripheral blood of disease-affected mice and patients are aberrantly activated. Our goal is to
define the role of CD8 T cells in disease initiation and progression. We will determine the function
of disease-associated CD8 T cells by transfer and depletion experiments and immune-histological
characterization in mice (Aim 1). We will assess molecular pathways of neuro-immune
interactions during disease by network modeling of transcriptomic and correlation-structure
analyses (Aim 2). Finally, we will validate the presence of activated CD8 T cells in mouse models
and patients with other forms of ALS (Aim 3). Our
contribution
of
results will provide a deeper knowledge of the
of CD8 T cells in ALS and open potential avenues for their use as immune biomarkers
disease progression and as novel therapeutic target.

## Key facts

- **NIH application ID:** 10595316
- **Project number:** 1R01NS123287-01A1
- **Recipient organization:** UNIVERSITY OF CALIFORNIA-IRVINE
- **Principal Investigator:** Laura Campisi
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $659,692
- **Award type:** 1
- **Project period:** 2023-09-01 → 2028-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10595316

## Citation

> US National Institutes of Health, RePORTER application 10595316, T cell immunity in a rare juvenile form of motor neuron disease (1R01NS123287-01A1). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10595316. Licensed CC0.

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