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Related Experiment Videos

Familial amyotrophic lateral sclerosis

T Siddique1, D Nijhawan, A Hentati

  • 1Department of Neurology, Northwestern University Medical School, Chicago, IL, USA.

Journal of Neural Transmission. Supplementum
|January 1, 1997
PubMed
Summary

Familial ALS (FALS) involves genetic mutations, often in the SOD1 gene. Overexpressing mutated SOD1 in mice causes ALS-like symptoms, suggesting a toxic gain of function.

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Amyotrophic lateral sclerosis (ALS) is primarily sporadic (90%) but has familial forms (FALS, 10%).
  • FALS exhibits genetic heterogeneity, with autosomal dominant (DFALS) and autosomal recessive (RFALS) inheritance patterns.
  • One RFALS locus is on chromosome 2q33; 15% of DFALS families have mutations in the Cu, Zn superoxide dismutase (SOD1) gene on chromosome 21.

Purpose of the Study:

  • To investigate the genetic basis of FALS.
  • To explore the role of SOD1 mutations in motor neuron degeneration.
  • To elucidate the pathogenic mechanisms underlying DFALS.

Main Methods:

  • Genetic mapping of RFALS loci.
  • Identification and analysis of SOD1 gene mutations in DFALS families.
  • Generation and study of transgenic mouse models overexpressing mutated SOD1.

Main Results:

  • Mutations in the SOD1 gene are found in 15% of DFALS families.
  • These SOD1 mutations typically lead to reduced enzyme activity and protein instability.
  • Transgenic mice expressing mutated SOD1 develop an ALS-like phenotype.

Conclusions:

  • Motor neuron degeneration in DFALS is likely caused by a toxic gain of function from mutated SOD1, not just loss of activity.
  • The study suggests novel neurotoxic mechanisms for mutated SOD1.

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