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In our project we found that an important mechanism used by cells to eliminate their unwanted molecules and structures--autophagy, was "blocked" in Machado-Joseph disease (MJD) due to a lack of a protein called beclin-1. When we restored beclin-1 levels, autophagy was re-established and the disease significantly improved.
Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) is a genetic neurodegenerative disorder originally described in people of Portuguese descent, and the most common of the dominantly inherited ataxias worldwide. MJD is associated with expansion of the number of CAGs within the coding region of the causative gene--MJD1. The abnormal …