Genetics of amyotrophic lateral sclerosis

Teepu Siddique*, Han Xiang Deng

*Corresponding author for this work

Research output: Contribution to journalShort survey

148 Citations (Scopus)

Abstract

Amyotrophic lateral sclerosis (ALS) is a paralytic disorder caused by degeneration of motor neurons in the brain and spinal cord. Identification of mutations in the gene for Cu,Zn superoxide dismutase (SOD1) in a subset of ALS families made it possible to develop a transgenic mouse model of ALS and to investigate its pathogenesis. These investigations suggest that mutant SOD1 acts through a toxic gain of function which may involve generation of free radicals. Conformational change in the mutant SOD1 protein, especially the distortion of the 'rim' of the electrostatic guidance channel may be central to this toxic gain of function and to the pathogenesis of ALS.

Original languageEnglish (US)
Pages (from-to)1465-1470
Number of pages6
JournalHuman molecular genetics
Volume5
Issue numberREVIEW
StatePublished - Sep 17 1996

Fingerprint

Amyotrophic Lateral Sclerosis
Poisons
Motor Neurons
Mutant Proteins
Static Electricity
Transgenic Mice
Free Radicals
Spinal Cord
Mutation
Brain
Genes
Superoxide Dismutase-1

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

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Genetics of amyotrophic lateral sclerosis. / Siddique, Teepu; Deng, Han Xiang.

In: Human molecular genetics, Vol. 5, No. REVIEW, 17.09.1996, p. 1465-1470.

Research output: Contribution to journalShort survey

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N2 - Amyotrophic lateral sclerosis (ALS) is a paralytic disorder caused by degeneration of motor neurons in the brain and spinal cord. Identification of mutations in the gene for Cu,Zn superoxide dismutase (SOD1) in a subset of ALS families made it possible to develop a transgenic mouse model of ALS and to investigate its pathogenesis. These investigations suggest that mutant SOD1 acts through a toxic gain of function which may involve generation of free radicals. Conformational change in the mutant SOD1 protein, especially the distortion of the 'rim' of the electrostatic guidance channel may be central to this toxic gain of function and to the pathogenesis of ALS.

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