Scientists create cells to treat Machado Joseph disease

A team of scientists led by the University of Coimbra has succeeded in creating human stem cells from skin cells that have the potential for long-term treatment of Machado Joseph disease, according to a study published on Tuesday.

The University of Coimbra said the research paves the way for the development of cells that could be used in the treatment of this neurodegenerative disease, which affects movement and speech articulation in particular and which has a high incidence in Portugal.

Study leader Liliana Mendonça explained that the discovery made by the research team demonstrates the possibility of applying personalized therapy to people with this disease by creating stem cells from the patients they intend to treat.

This will lead to greater acceptance of the transplant, emphasized the researcher from the Center for Neuroscience and Cell Biology of the University of Coimbra (CNC-UC) and the Center for Innovation in Biomedicine and Biotechnology (CIBB).

Considered very versatile, stem cells enable the creation of specialized cells for various tissues and organs of the human body.

Machado-Joseph disease still has no cure. The cerebellum is one of the most affected areas of the brain, resulting in widespread neuronal loss, difficulty in motor coordination, swallowing and speech articulation.

“It has a high prevalence in the Azores, especially on the island of Flores, which has the highest incidence rate in the world,” the researcher said.

The research team created cells that demonstrated the ability to generate neurons in cell cultures (a set of methods for testing the behavior of cells in an artificial environment), as well as in cerebral organoids (tissues created “in vitro”, that is, outside living organisms). ).

At the same time, researchers observed that human stem cells survived up to six months after transplantation into the cerebellum of an animal model, differentiating into glial cells (cells of the central nervous system that perform various functions) and neurons, Liliana Mendonça said. This means they have identified potential for beneficial effects in the fight against neurodegenerative diseases.

“There is an urgent need to develop therapeutic strategies capable of treating neurodegenerative diseases that will significantly improve the quality of life of patients, thereby helping to reduce the burden on healthcare systems and the families of these patients,” warned.

This work, developed by a team from the Gene and Brain Stem Therapy research group at CNC-UC, is under further development.

One goal is to study how these cells can improve motor coordination problems associated with the disease in an animal model.

The study coordinator said the scientists will also develop strategies to improve cell migration and then differentiation into cerebellar neurons after transplantation into the brain, which could significantly increase the therapeutic effect of these cells.