A team of Genomic Regulation Center (CRG) in Barcelona has taken a crucial step in the understanding of a rare child disease, known as Tango2 deficiency disorder2 (TDD), which affects a small group of children worldwide. The discovery dates back to 2006, when the researchers identified a group of genes called Tango, without knowing that one of them, Tango2, would cause a rare and potentially deadly disease.
The discovery on the role of Tango2 in cell metabolism not only offers new perspectives on the treatment of this rare disease, but it could also have a significant impact on the understanding and treatment of common metabolic diseases.
In 2016, it was established that mutations in Tango2 are responsible for the TDD, a condition that, although it affects only about 110 patients worldwide, could be thousands of non -diagnosed cases.
In Spain, At least 11 people are identified with this conditionbut it is estimated that the global patient figure could reach between 6,000 and 9,000.
TDD seriously affects children’s ability to meet body energy demands, which causes metabolic crisis that includes sudden blood glucose falls, rhabdomyolysis (muscle destruction) and cardiac arrhythmias. These crises, which are usually triggered by factors such as fever or infections, are potentially mortal and require emergency interventions, such as intravenous glucose administration in hospitals.
The team led by Vivek Malhotra He has investigated the molecular functioning of Tango2 for years, revealing that the protein is involved in energy production within cell mitochondria. Recent studies have shown that Tango2 plays a key role in transporting fats inside cells, a crucial process to produce energy, especially in the heart and muscles.
In his latest study, published in the ‘Journal of Cell Biology‘, The scientists showed that Tango2 joins a key fat molecule, called Acil-Coa, and transports it inside the cells. This discovery provides a new perspective on metabolic crises in patients with TDD, since affected cells cannot properly process the necessary fats to obtain energy, which deprives them of a vital source of fuel.
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Despite the rarity of the disease, the findings could have broader applications in the understanding of common heart and muscular diseases, since the biological process involved in the metabolism of fats is not so different in these pathologies.
Although there is currently no definitive cure for TDD, the most effective treatment consists in administering vitamin B5, which helps some patients avoid metabolic crises. However, scientists still do not completely understand why this vitamin has this effect.
Researchers continue to explore how Tango2 interacts with fats and if there could be new ways to treat Tango2 deficiency, or at least identify it early. “The more we understand the molecular mechanisms, the greater the possibilities of developing directed therapies,” says ombreot Foresti, co -author of the study.
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