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What transgenic mice tell us about neurodegenerative disease
Author(s) -
Gurney Mark E.
Publication year - 2000
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/(sici)1521-1878(200003)22:3<297::aid-bies12>3.0.co;2-i
Subject(s) - amyotrophic lateral sclerosis , disease , transgene , genetically modified mouse , biology , spinocerebellar ataxia , genetics , gene , pathogenesis , mutation , huntington's disease , neuroscience , medicine , immunology , pathology
The recent broad advance in our understanding of human neurodegenerative diseases is based on the application of a new molecular approach. Through linkage analysis, the genes responsible for Huntington's disease, the spinocerebellar ataxias, and familial forms of Alzheimer's disease and amyotrophic lateral sclerosis (ALS) have been identified and cloned. The characterization of pathogenic mutations in such genes allows the creation of informative transgenic mouse models as, without exception, the genetic forms of adult neurodegenerative disease are due to toxicity of the mutant protein. Transgenic models provide insight into the oxidative mechanisms in ALS pathogenesis, the pathogenicity of expanded polyglutamine tracts in CAG triplet repeat disorders, and amyloidogenesis in Alzheimer's disease. Although such models have their limitations, they currently provide the best entry point for the study of human neurodegenerative diseases. BioEssays 22:297–304, 2000. © 2000 John Wiley & Sons, Inc.