The function of ATN1 is not clear, however it is believed to be a transcriptional co-repressor.
•
DRPLA is characterized by marked, generalized brain atrophy and the accumulation of atrophin-1 with expanded glutamine stretches.
•
DRPLA is observed relatively less frequently in other ethnic populations and an analysis of normal ATN1 alleles has demonstrated that CAG repeat length greater than 17 are significantly more frequent in the Japanese population.
•
ATN1 and atrophin-2 can be co-immunoprecipitated, indicating that they may carry out some functions together in a molecular complex.
•
Mutant atrophin-1 proteins have been found in neuronal intranuclear inclusions (NII) and diffusely accumulated in the neuronal nuclei.
•
Filementous, atrophin-1 positive, inclusions are also observed exclusively in the cytoplasm of the dentate nucleus, which are extremely similar to the inclusions observed in the motor neurons in amyotrophic lateral sclerosis.
•
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein.
atrophy | Spinal muscular atrophy | spinal muscular atrophy | Muscle atrophy | Atrophy |