Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain.
Dentatorubral-pallidoluysian atrophy (DRPLA) is associated with the expansion of an unstable CAG repeat. Using antibodies against a synthetic peptide corresponding to the sequence of the DRPLA gene product C terminus, we have identified the DRPLA gene product in normal human brains as a approximately 190 kD protein. We also find a larger approximately 205 kD protein specifically in DRPLA brains. Immunohistochemically, the DRPLA gene product is observed mainly in the neuronal cytoplasm. Our results demonstrate the existence of the expanded CAG repeat gene product and support the possibility that the expanded CAG-encoded polyglutamine stretch may participate in the pathological process of the similar trinucleotide repeat diseases.
Yazawa
I
I
Department of Neurology, Faculty of Medicine, University of Tokyo, Japan.
Nukina
N
N
Hashida
H
H
Goto
J
J
Yamada
M
M
Kanazawa
I
I
D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002525:Cerebellar Cortex / Q000378:metabolism; D002540:Cerebral Cortex / Q000378:metabolism; D003593:Cytoplasm / Q000378:metabolism; D003704:Dementia / Q000235:genetics / Q000378:metabolism; D004831:Epilepsies, Myoclonic / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D015151:Immunoblotting; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D002527:Myoclonic Cerebellar Dyssynergia / Q000235:genetics / Q000378:metabolism; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009474:Neurons / Q000378:metabolism; D010446:Peptide Fragments / Q000235:genetics / Q000276:immunology; D012091:Repetitive Sequences, Nucleic Acid; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D013577:Syndrome
D009419:Nerve Tissue Proteins; D010446:Peptide Fragments; C095278:atrophin-1