Related Experiment Video

Updated: May 30, 2026

Lumbar Intrathecal Injection of SOD1-ASOs for Precise CNS Targeting and Predictive Efficacy in Human SOD1-G93A ALS Mice
04:41

Lumbar Intrathecal Injection of SOD1-ASOs for Precise CNS Targeting and Predictive Efficacy in Human SOD1-G93A ALS Mice

Published on: February 24, 2026

ALS genetic modifiers that increase survival of SOD1 mice and are suitable for therapeutic development

Giulietta Riboldi1, Monica Nizzardo, Chiara Simone

  • 1Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, IRCCS Fondazione Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.

Progress in Neurobiology
|August 6, 2011
PubMed

Insights

Researchers reviewed 10 key genes in animal models of Amyotrophic Lateral Sclerosis (ALS). Modifying these genes may extend lifespan and slow disease progression in this motor neuron disease.

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Amyotrophic Lateral Sclerosis (ALS) is a fatal motor neuron disease with no current cure.
  • Identifying molecular therapeutic targets is crucial for developing effective treatments for ALS.
  • Transgenic animal models are instrumental in studying ALS pathogenesis and evaluating potential therapeutic genes.

Purpose of the Study:

  • To review recent discoveries and research on potential molecular therapeutic targets for ALS.
  • To identify and analyze the 10 most promising genes that, when modulated, could impact ALS progression and lifespan in animal models.
  • To explore the interconnectedness of these genes and their involvement in common pathogenic pathways.

Main Methods:

  • Systematic review of studies involving transgenic ALS murine models crossed with animals expressing specific ALS target genes.
  • Selection of 10 key genes based on their demonstrated impact (up-regulation or down-regulation) on lifespan and disease mitigation in ALS animal models.
  • Analysis of identified genes for involvement in common biological pathways, including inflammation, cytoskeletal activity, and endoplasmic reticulum function.

Main Results:

  • Ten genes (XBP-1, NogoA/B, dynein, heavy/medium neurofilament, NOX1/2, MLC-mIGF-1, NSE-VEGF, MMP-9) were identified as promising targets.
  • Common pathways implicated in ALS pathogenesis include inflammation and cytoskeletal dynamics.
  • The endoplasmic reticulum plays a significant role in various selected gene pathways relevant to ALS.

Conclusions:

  • Modulating the identified genes holds potential for increasing lifespan and mitigating disease progression in ALS.
  • Inflammation, cytoskeletal activities, and endoplasmic reticulum function are critical interconnected pathways in ALS pathogenesis.
  • The findings suggest a potential underlying common pathway that links these identified genes and possibly others yet to be discovered in ALS.

More Related Videos

A Quick Phenotypic Neurological Scoring System for Evaluating Disease Progression in the SOD1-G93A Mouse Model of ALS06:49

A Quick Phenotypic Neurological Scoring System for Evaluating Disease Progression in the SOD1-G93A Mouse Model of ALS

Published on: October 6, 2015

A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins08:37

A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins

Published on: April 30, 2018

Related Concept Videos

In-vitro Mutagenesis01:16

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
Mouse Models of Cancer Study02:43

Mouse Models of Cancer Study

Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...