ALS2/alsin knockout mice and motor neuron diseases

Huaibin Cai, Hoon Shim, Chen Lai, Chengsong Xie, Xian Lin, Wan Jou Yang, Jayanth Chandran

Research output: Contribution to journalReview articlepeer-review

Abstract

Autosomal recessive mutations in the ALS2 gene have been linked to juvenile-onset amyotrophic lateral sclerosis (ALS2), primary lateral sclerosis and juvenile-onset ascending hereditary spastic paraplegia. Except for two recently identified missense mutations, all other mutations in the ALS2 gene lead to a premature stop codon and likely abrogate all the potential functions of alsin, the protein encoded by the ALS2 gene. To study the pathologic mechanisms of ALS2 deficiency, four different lines of ALS2 knockout (ALS2 -/-) mice have been generated by independent groups. The loss of ALS2/alsin does not have a drastic effect on the survival or function of motor neurons in mice. However, subtle deficits observed in the behavior and pathology of these mice have aided in our understanding of the relationship between alsin and motor neuron dysfunction. In this review, we summarize and reconcile major findings of ALS2-/- mice and attempt to place these results within the larger context of modeling recessive movement disorders in mice.

Original languageEnglish (US)
Pages (from-to)359-366
Number of pages8
JournalNeurodegenerative Diseases
Volume5
Issue number6
DOIs
StatePublished - Sep 2008
Externally publishedYes

Keywords

  • ALS2
  • Alsin
  • Amyotrophic lateral sclerosis
  • Guanine nucleotide exchange factor
  • Hereditary spastic paraplegia
  • Knockout mice
  • Mouse model
  • Primary lateral sclerosis

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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