Research developed at UAlg distinguished by the Portuguese Society of Human Genetics

A study that unveiled the potential of activating cholesterol metabolism as a future therapy for Machado-Joseph Disease (DMJ) has just been awarded the “Scientific Article” prize by SPGH.

Developed by researchers from the Centre for Neuroscience and Cell Biology at the University of Coimbra (CNC-UC), in collaboration with a team from the Biomedical Research Centre (CBMR) of the University of Algarve, and a team in France, at BrainVectis Therapeutics and Inserm, the work, entitled “Restoring brain cholesterol turnover improves autophagy and has therapeutic potential in mouse models of spinocerebellar ataxias” was published in July 2019 in the renowned scientific journal Acta Neuropathologica.

The researchers found that the CYP46A1 protein, an enzyme that plays a key role in brain cholesterol metabolism, “has lower levels in the brain of patients with Machado-Joseph disease and that overexpression of this protein triggers activation of autophagy (the main process of cleaning our cells), the activation of which we had previously shown to be extremely important for cleaning the agglomerates of mutant ataxin-3, the waste that accumulates in neurons and causes Machado-Joseph disease ”.

The prize was given to the main authors of the study, Liliana Mendonça, from CNC-UC, and Clévio Nóbrega, from CBMR during the 24th meeting of SPGH, on Friday, 20 November, and Clévio Nóbrega, from CBMR. According to the two researchers, “the modulation of CYP46A1 may lead to a more general therapeutic strategy, which could be applied to several neurodegenerative diseases that present a reduction in the levels of CYP46A1 in the brain, and which may at least relieve the phenotype of these diseases, even if it cannot cure them”.

The award-winning work can be consulted at