Machado-Joseph Disease is a rare hereditary neuropathology, that affects people around the world, but in Portugal, most cases are registered in Flores Island, in the Azores, of a disease that has no effective therapy, as mentioned in the communiqué.

A mutation in the ATXN3 gene is the cause of the disease, as a mutated form of the ataxin-3 protein accumulates in the brain, leading to neuronal death. The main symptoms of the disease may be seen while the patient walks, talk and swallow, for example.

The research was led by Luís Pereira de Almeida, the president of CNC-UC and professor at the Faculty of Pharmacy of the University of Coimbra, who wanted to develop a therapeutic strategy to stop the mutation that is associated with Machado-Joseph Disease, by using extracellular vesicles.

David Ramos and Kevin Leandro, both researchers at CNC-UC, stated on the note said that “these vesicles function as small ‘pockets’ capable of transporting genetic material, such as RNA, non-invasively.” The team used biotechnological methods to obtain better results regarding the amount of therapeutic material, specifically artificial microRNAs.

The researchers concluded that the silencing sequences accomplished the main objective of the research, based on the results of studies carried out in different cellular and animal models.

The study was published in the scientific journal Molecular Therapy and was carried out with the help of the funding Operational Program for the Central Region 2020 (COMPETE 2020).

Author

Deeply in love with music and with a guilty pleasure in criminal cases, Bruno G. Santos decided to study Journalism and Communication, hoping to combine both passions into writing. The journalist is also a passionate traveller who likes to write about other cultures and discover the various hidden gems from Portugal and the world. Press card: 8463. 

Bruno G. Santos