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Related Experiment Video

Updated: Sep 5, 2025

Intramuscular Injections Along the Motor End Plates: A Minimally Invasive Approach to Shuttle Tracers Directly into Motor Neurons

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Gene Therapy in Amyotrophic Lateral Sclerosis.

Ton Fang¹, Goun Je¹, Peter Pacut¹

¹Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA.

|July 9, 2022

Summary

Gene therapy strategies are advancing for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) by targeting common genetic mutations like C9orf72 and SOD1. These approaches aim to suppress toxic gene effects, with some now in clinical trials.

Keywords:

C9orf72 Cu/Zn superoxide dismutase (SOD1)TAR DNA binding protein 43 (TARDBP)amyotrophic lateral sclerosis (ALS)fused in sarcoma (FUS)gene therapy

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Intramuscular Injections Along the Motor End Plates: A Minimally Invasive Approach to Shuttle Tracers Directly into Motor Neurons

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Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

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Published on: July 16, 2021

Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Over 50 genes are linked to ALS and ALS/frontotemporal dementia (FTD) spectrum diseases, with C9orf72, SOD1, TARDBP, and FUS mutations being the most prevalent.
Decades of research have focused on understanding the pathogenic mechanisms of these genetic mutations in ALS/FTD.

Purpose of the Study:

To provide an overview of gene therapy advancements for ALS/FTD.
To focus on therapeutic strategies targeting the most common genetic mutations: C9orf72, SOD1, TARDBP, and FUS.

Main Methods:

Review of gene therapy strategies including RNA inhibition (microRNA, ASOs), RNA interference (RNAi), mutant protein inhibition (antibodies), and genome editing (CRISPR/Cas).
Analysis of the application of these strategies in preclinical studies and clinical trials for ALS/FTD.

Main Results:

Gene therapy approaches show promise in suppressing toxic gene products associated with ALS/FTD.
Several gene therapy strategies, particularly for C9orf72 and SOD1 mutations, have progressed to clinical trials.

Conclusions:

Gene therapy offers a promising avenue for treating ALS/FTD by directly addressing the underlying genetic causes.
Continued research and clinical application of these gene-targeting strategies are crucial for developing effective ALS/FTD treatments.