Treatment for a rare disease


Researchers in Portugal are conducting tests on drugs, already approved for other diseases, to treat a debilitating neurodegenerative disorder.


Searching for a treatment for Machado-Joseph disease – a rare genetic condition characterised by loss of co-ordination - the team, at the Life and Health Sciences Research Institute of University of Minho, tested citalopram - a drug already used to treat depression – in a mouse model.


The mice were first genetically engineered to express the human disease-causing protein and shown to mimic the patient’s symptoms, and then used it to test candidate drugs. The results showed that the citalopram was effective both at reducing the severity of the motor symptoms and slowing the progression of the disease.


The animal models provide essential information regarding nervous system function that is not possible to obtain in cell culture systems and allow us to evaluate the effect of treatments on the organism as whole, namely on the movement problems associated with the disease.
In my perspective, animal models are fundamental for the understanding of human disease pathophysiology and get us one step closer to finding effective treatments that could greatly improve patients’ lives.
We do, however, have the responsibility to always conduct research with the highest standards of animal welfare, for which adequate training and regulations are essential.”

Patrícia Maciel, Scientist at the Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho.

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