Basic research

Gene therapy on SMA mice with a-SMN

In 2006 an all-Italian study, led by prof. Giorgio Battaglia of Neurologic Institute "C. Besta" in Milan, in collaboration with Dr. Enrico Garattini of Institute “Mario Negri”, has allowed the identification of a novel protein involved in the genesis of SMA. All this we have already discussed extensively in an article and in a deepening.

To summarize briefly, please note that new protein, called a-SMN or axonal SMN, have ownership of the growing axons of the motor neurons, which means the extensions by which nerve cells of the spinal cord are able to operate our muscles. The discovery of this new protein has led the group directed by Giorgio Battaglia to hypothesize that the lack or reduction of a-SMN in SMA "put in crisis" motor neurons that no longer maintain functional their axons, with progressive muscle atrophy.

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The protective modifier Plastin3

In the journal Science (April 25, 2008) Dr. Brunhilde Wirth and her research group at the Institute of Human Genetics in Cologne (Germany), presented the identification of the first protective modifier gene of spinal muscular atrophy (SMA). Spinal muscular atrophy is an autosomal recessive motor neuron disease and the most frequent genetic cause of early childhood lethality. SMA is caused by deletions or mutations in the telomeric copy of the survival motor neuron (SMN1) gene, leading to the depletion of SMN protein levels.

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New discovery on the causes of SMA

Spinal muscular atrophy (SMA), long believed to be caused by the loss of motor neurons (nerve cells that control muscle) in the spinal cord, may begin with events preceding motor neuron loss, according to a group of researchers coordinated by MDA grantee Umrao Monani at Columbia University in New York.
Monani and colleagues, who published their results on august 15 in Human Molecular Genetics, say the findings could have important implications for development of SMA treatments.
The underlying cause of SMA is a deficiency of the SMN (survival of motor neuron) protein. The more SMN one has, the better, with very low levels resulting in severe disease and somewhat higher levels resulting in mild disease. Until recently, the steps between SMN depletion and loss of motor neurons have remained obscure.

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New SMA protein

An all-Italian study, conducted at the Foundation ICRRS Besta Neurological Institute in Milan, in collaboration with the Mario Negri Institute, led to the discovery of axonal SMN (named a-SMN) protein never described before, that can perhaps explain the mechanism of action of spinal muscular atrophy (SMA), not yet fully clarified.
We look forward to properly investigate this story, talking with the two researchers, authors of the discovery, Giorgio Battaglia for the Institute Besta and Enrico Garattini for the Mario Negri.

First of all what did you discovery? "We have identified a new protein - says Garattini - which we call a-SMN or axonal-SMN produced precisely by the gene responsible for SMA. It is located in a relatively specific manner to the level of motor neuron axons and is able to activate the growth of the same. It could be the missing link in a position to explain the genesis of SMA”.
"In fact - Battaglia adds - for more than ten years, scientists are asking why in the SMA motor neurons selectively die. Our working assumption is that they die because they lack a-SMN, and for this they are unable to maintain their axons and to properly innervate muscle cells in the periphery".

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