[Excerpt] Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease with an autosomal dominant inheritance pattern. Nowadays, it is the most common form of spinocerebellar ataxia and an incurable disorder, which leads to death1.
MJD is caused by the expansion of CAG trinucleotide repeat in the coding region of the gene ATXN3 and the aggregation of the resulting product. This polyQ expansion is thought to be the key of the disease, in which the length of this polyQ extension is linked to earlier and more severe symptons2. This mutant protein disturbs the normal neuronal function and leads to its degeneration, with subsequent formation of neuronal intranuclear inclusions. Although there is no treatment available, a more accurate diagnosis of MJD may lead to relieved symptoms2. Research activities targeting such possibility include the identification of biomarkers in several biological fluids that may turn out an important means to early diagnosis or even potential therapy biomarkers within future3,4. [...]Funding of project IBEROS, Instituto de Bioingeniería en Red para
el Envejecimiento Saludable, POCTEP/0245-BEROS-1-E, PROGRAMA INTERREG 2014-2020, to FEDER within the cooperation region of Galiza/Spain and North of Portugalinfo:eu-repo/semantics/publishedVersio
