TorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseases.
A mutation of the DYT1 gene, which codes for torsinA, has been identified as a cause of autosomal dominantly inherited dystonia. The function of torsinA is not yet known, but it is found throughout the central nervous system and has been identified in Lewy bodies in Parkinson's disease. We examined cases of Huntington's disease, spinocerebellar ataxia type III, and Huntington's disease-like 2 using antibodies to torsinA, and found that ubiquitinated, intranuclear neuronal inclusions were torsinA-immunoreactive, possibly indicating a role for torsinA in protein degradation.
D000906:Antibodies / Q000378:metabolism; D001921:Brain / Q000378:metabolism; D002352:Carrier Proteins / Q000378:metabolism*; D005453:Fluorescence; D006801:Humans; D006816:Huntington Disease / Q000235:genetics / Q000378:metabolism*; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000378:metabolism*; D017827:Machado-Joseph Disease / Q000235:genetics / Q000378:metabolism*; D018832:Molecular Chaperones; D009474:Neurons / Q000378:metabolism; D018911:Trinucleotide Repeats
D000906:Antibodies; D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human