Autophagy Function and Benefits of Autophagy Induction in Models of Spinocerebellar Ataxia Type 3.

ABSTRACT:

Background

Spinocerebellar ataxia 3 (SCA3, also known as Machado Joseph disease) is a fatal neurodegenerative disease caused by the expansion of the trinucleotide repeat region within the ATXN3/MJD gene. The presence of this genetic expansion results in an ataxin-3 protein containing a polyglutamine repeat region, which renders the ataxin-3 protein aggregation prone. Formation of ataxin-3 protein aggregates is linked with neuronal loss and, therefore, the development of motor deficits.

Methods

Here, we investigated whether the autophagy protein quality control pathway, which is important in the process of protein aggregate removal, is impaired in a cell culture and zebrafish model of SCA3.

Results

We found that SH-SY5Y cells expressing human ataxin-3 containing

SUBMITTER: Watchon M 

PROVIDER: S-EPMC10047838 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature