IBUB study identifies new functions in the gene that causes Machado-Joseph disease

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Ataxia is a minority disease with genetic origins, known for its neuromuscular alterations due to the selective loss of neurons in the cerebellum, the organ of our nervous systems which controls movement and balance. UB researchers have identified new functions in the ataxin 3 gene (ATXN3) –which causes Machado-Joseph disease, the most common type of ataxia– in the development of retina photoreceptors. According to the researchers, these results are not only relevant to analyse the molecular causes of ataxia and for the design of potential therapies against the disease but also to understand other diseases, such as macular degenerations.

The study, published in the journal Cell Reports, is led by Gemma Marfany, professor at the Department of Genetics, Microbiology and Statistics and researcher at the Institute of Biomedicine of the UB (IBUB) and the Rare Diseases Networking Biomedical Research Centre (CIBERER). Among other participants are the experts from the same Department, Vasileios Toulis, Sílvia García Monclús, Carlos de la Peña Ramírez, Rodrigo Arenas Galnares, Josep F. Abril and Alejandro Garanto, as well as other researchers from the University of Michigan and the Wayne State University (United States).

Molecular genetics of retinal inherited dystrophies Lab Team

The Machado-Josep disease, also known as spinocerebellar ataxia-3, is caused by gain of function mutations in the ATXN3 gene. These mutations induce the formation of neurotoxic aggregates that involve the progressive death pf neurons in the cerebellum. However, not much is known about the basic function of the ATXN3 gene. In this context, the UB team has conducted its research for more than twenty years on the genetic causes of hereditary diseases in the retina, a neurosensorial tissue part of the central nervous system and which is in charge of our sight. “In previous studies, our group found that ATXN3 is expressed in a relevant way in the retina of an adult mouse, but it does so during the development of this tissue, so we suggested that we should find out the function of this gene in the retina”, notes Gemma Marfany.

Reference article:

Toulis, V.; García-Monclús, S.; De la Peña-Ramírez C.; Arenas-Galnares, R.; Abril, J. F.; Todi, S. V.; Khan, N.; Garanto, A.; Do Carmo Costa, M. and Marfany, G. “The deubiquitinating enzyme ataxin-3 regulates ciliogenesis and phagocytosis in the retina”. Cell Reports, November, 2020. Doi: https://doi.org/10.1016/j.celrep.2020.108360

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