Research on Huntington’s disease, a serious and rare neurodegenerative genetic condition that affects movement coordination and leads to an unstoppable neurological decline, is enriched with a new therapeutic possibility. The Neurogenetics and Rare Diseases Laboratory of the Irccs Neuromed in Pozzilli (Is) conducted a study, published in ‘Molecular Therapy’, which demonstrates how much an experimental molecule could reduce the neurodegenerative effects of Huntington’s disease. Studied on animal models, it appears capable of restoring the correct metabolism of some sphingolipids, essential components of cells.
The efforts of international researchers – a Neuromed note details – are developing in two directions: on the one hand, an action on the patients’ DNA, aiming to decrease the production of huntingtin (the mutated protein responsible for Huntington’s disease), on the other possibility of protecting neurons by limiting the damage produced by the molecule itself. It is on this second path that a research conducted by the Irccs of Molise develops. The researchers used, on animal models of the disease, an experimental molecule capable of acting on the metabolism of sphingosine-1-phosphate (S1P), a lipid essential for the survival of neuronal cells. Previous studies conducted by the same laboratory had already demonstrated how sphingolipids play a central role in Huntington’s disease, and that is why the authors of the study aimed to restore their correct metabolism
“The molecule we have studied, called THI – explains Vittorio Sweater, from the Laboratory of Neurogenetics and Rare Diseases – manages to block an enzyme that causes the degradation of S1P. In this way we have restored the correct levels of some glycosphingolipids, with very interesting results Indeed, in animal models, we observed a protective effect towards myelin (the substance that coats nerve fibers, protecting them and facilitating the transit of electrical impulses, ed) and towards the synapses (the points where neurons establish connections, ed )”.
Furthermore, the experimental drug also acts on two other crucial mechanisms, as underlined by the researcher Giuseppe Pepe: “We observed the activation of autophagy, a crucial process in which cells ‘recycle’ their components, and a reduction in the accumulation of huntingtin in neurons. These observations lead us to believe that the action on the metabolism of S1P could constitute a concrete objective in the search for therapies aimed at reducing the neurodegeneration induced by Huntington’s disease”.
As with most rare conditions, Huntington’s disease has no definitive cure. “Our studies – concludes Alba Di Pardo – could favor the repositioning of drugs that are already used for other pathologies, characterized by glycosphingolipid dysfunction, or promote the development of new molecules with the same characteristics”.
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