Spinal Muscular Atrophy: a molecule that slows down the disease has been identified

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Not only cure the symptoms, but slow them down by protecting the body from the fast attack of the genetic disease that atrophies the muscles.

L’Spinal muscular atrophy (SMA extension) is a rare (but not too much) neuromuscular disease of childhood, characterized by the loss of motor neurons, nerve cells that carry signals from the central nervous system to muscles, controlling their movement. SMA, which has an incidence of approx 1 in 6-10,000 born alive, causes weakness, progressive muscle wasting, and respiratory complications. It is caused by mutations of the survival motor neuron gene and consequent protein deficiency SM extension (Survival Motor Neurons), essential for the survival and normal functioning of motor neurons.

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Now the news has arrived that a small molecule, MR-409synthesized in Miami in the laboratory of Prof Andrew Viktor SchallyNobel Prize in Medicine and co-author of the work, is able to improve motor functions, attenuate muscle atrophy and promote maturation of neuromuscular junctions (this in an experimental model of SMA). Moreover, MR-409 counteracts motor neuron loss and reduces inflammation in the spinal cord. These results suggest that MR-409 may represent a future potential drugin combination with other therapies, in the treatment of SMA.

This good news was spread by the prestigious American magazine Proceedings of the National Academy of Science (PNAS), publishing the results study carried out by the University of Turin and coordinated by the Professor Richard Granatafrom the Division of Endocrinology and Metabolic Diseases (directed by Prof. Ezio Ghigo) of the Department of Medical Sciences and by Prof. Alexander Vercellidirector of the NICO – Neuroscience Institute Cavalieri Ottolenghi, Department of Neuroscience.

How SMA manifests itself

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«SMA – explains Professor Granata – can be of four types, or rather degrees: the most serious form is SMA type 1 that affects children in the first six months of life: newborns find it difficult to breathe precisely because their muscles don’t work; they are intubated but often do not make it. Children affected by type 2 sit but move with difficulty, while those affected by one SMA type 3 they can walk there Sma type 4finally, it can go almost unnoticed and usually has an onset in adulthood, manifesting itself around the age of 40/50 (although the gene is modified since birth)”. The important thing, therefore, is to be able to slow down the effects of the first three forms.

What the new discovery represents

Before entering the market the MR-409 will have to go through others trials: «The molecule – underlines Granata – is not salvific, however it certainly slows down the progression of the disease» and in a few years we will also understand how much the quality of life (and its quantity) of a person affected by SMA can increase. Granata concludes with more good news: “Right now we are applying the same type of study and experimental model to neurodegenerative diseases such asAlzheimers», which unfortunately, as we know, mainly affects women.

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Source: Vanity Fair

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