Science & Society | News | New discovery in the treatment of Machado-Joseph disease

New discovery in the treatment of Machado-Joseph disease

Researchers from ICVS identify cytalopram as a promising drug in the treatment of Machado-Joseph disease. The study was published in the renowned Brain journal.

Machado-Joseph disease (MJD) is an inherited and currently incurable neurodegenerative disease caused by a mutation in the ATXN3 gene. When modified, this gene produces an abnormal protein (ataxin-3) that forms aggregates in neurons leading to their malfunction. This results in problems in movement coordination, balance, in speech and food swallowing. These symptoms become more severe with time, patients becoming wheelchair-bound and later bedridden. Through the screening of over 600 drugs already approved and available for human use, researchers from the University of Minho identified citalopram, a drug commonly used as an antidepressant, to be a potent suppressor of the aggregation and toxicity of mutant ataxin-3 in the nervous system. This effect was observed in both transgenic model of MJD in the nematode C. elegans (a small worm growing in the soil, often used in neurobiology studies), and in the mouse model of the disease. When treated with citalopram, mice that mimic MJD responded very well, with significant improvements in motor coordination and in other symptoms associated with the disease. These results point to serotonin neurotransmission as a promising new therapeutic target for MJD. Additionally, these results show that the strategy of discovering new uses for drugs already in the market (re-purposing) can be useful in the case of rare diseases. The next step is to conduct a clinical study in humans to validate these results.

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