Clévio Nóbrega, CBMR researcher working in the field of neuroscience, particularly in the application of gene therapy to neurodegenerative diseases, is the latest winner of the annual prize of Portuguese Society of Human Genetics. The prize aims to distinguish the best international scientific article published in the field of genetics by a portuguese researcher.
This year the distinction was attributed to the CBMR researcher by the publication of the article “Reestablishing Ataxin -2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease”, a paper published last year in the renowned journal Brain.
The article, editor’s choice in 2016, proposes to investigate the role and relevance of the protein ‘ataxin-2’ in Machado-Joseph disease (DMJ), a heritable disease characterized by “motor incoordination and muscular atrophy that provokes difficulties in swallowing, speech and vision”.
In this scientific article Clévio Nóbrega and his colleagues suggest that in Machado-Joseph disease, mutant ataxin-3 drives an abnormal reduction of ataxin-2 levels, which overactivates poly(A)-binding protein, increases translation of mutant ataxin-3 and other proteins and aggravates Machado-Joseph disease. Re-establishment of ataxin-2 levels reduces mutant ataxin-3 and alleviates Machado-Joseph disease pathogenesis opening a new avenue for therapeutic intervention in this and potentially other polyQ disorders.
See more here.