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08/05/2015

The Research Group on Neuromuscular and Mitochondrial Diseases is investigating to improve Antonio's quality of life

2015_0082_IMATGE

08/05/2015

The platform ‘Muévete con Antonio’ is collecting money to fund research on a mitochondrial disease in VHIR

Antonio is a three-year-old child who has a rare disease called mitochondrial myopathy due to thymidine kinase 2 (TK2) deficiency. This is a genetic disease that affects very few people in the world. The Research Group on Neuromuscular and Mitochondrial Diseases of VHIR, which studies and seeks for new treatments for this and other related diseases, made the genetic diagnose of Antonio and is helping to better understand the illness in order to improve the quality of life of these patients. The disease that Antonio suffers is caused by a genetic defect leading to protein TK2 deficiency. This protein is very important because is responsible for producing and maintaining the DNA from mitochondria, which are the intracellular elements providing energy to the cell, among other important roles. As a consequence of TK2 deficiency, patients are lacking two of the nucleotides that form the mitochondrial DNA, which affects several organs of the patients. Specifically, patients have problems in the function and development of their muscles, and their mobility and respiratory function can be compromised.For the moment, only one expensive treatment has been proposed to improve the quality of life of these patients. This treatment is based on the administration of the missing nucleotides. But now, the Research Group on Neuromuscular and Mitochondrial Diseases of VHIR, with Dr Ramon Martí as principal investigator, has suggested an alternative therapy, which is cheaper than the other, and is based on the administration of the nucleotides’ precursors: the nucleosides. As the doctor said: "up to now, the experimental facts indicate this alternative treatment is as efficient as the previous one". Importantly, production of nucleosides is significantly cheaper, which would help assuring all patients get access to the therapy. Antonio is trying this new therapy and, so far, results are as good as expected. Antonio’s parents have developed a "http://www.mueveteconantonio.org/" platform with a website to raise awareness of the disease and to collect money to guarantee Antonio’s treatment and to fund research on the disease. Before long, on the 30th of May, they are going to inaugurate a "https://colectivoluzdelsur.carbonmade.com/" solidarity photograph exhibition in order to raise funds to support the investigation carried out by the Research Group on Neuromuscular and Mitochondrial Diseases. These resources are going to be invested in the research on this disease and to develop therapeutic approaches to improve the quality of life of Antonio and all other patients suffering from TK2 deficiency. This is the "https://colectivoluzdelsur.carbonmade.com/projects/5595217" exhibition's poster.

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