Projects

The purpose of SMA Europe is to provide a framework to stimulate collaboration and accelerate translational research pathways in SMA and promote patient care.

  1. Unravelling the role of Stathmin-2 in SMA as a key a key cause of motor neuron vulnerability and as a therapeutic target

    Principal investigator(s) :
    Dr. Monica Nizzardo
    Institution :
    Neural Stem Cell laboratory, Ospedale Maggiore Policlinico, Milan, Italy
    Grant :
    €150,000
    Grant Type:
    Operating Grant
    Call number :
    10
    Start year :
    2020
    Duration :
    2 years
    Status :
    Not yet started


    Dr Monica NizzardoDr. Monica Nizzardo, a member of the Neural Stem Cell laboratory at the Ospedale Maggiore Policlinico in Milan, Italy, has been granted an SMA Europe award to look at the potential role of the Stathmin 2 protein in motor neuron degeneration in SMA and its modulation as a therapeutic strategy.

    Background

    To date, the therapies available for SMA aim to restore the levels of SMN1 and thereby, the functionality of the SMN protein encoded by it. Other mechanisms are also altered in this disease and increasing the SMN protein levels alone may not always be sufficient. Another protein, Stathmin 2 (STMN2), is mainly associated with neuronal growth and regeneration. Alterations in its expression or its molecular processing have been described in another neurodegenerative motor neuron disease, amyotrophic lateral sclerosis (ALS). Furthermore, a similar deregulation of STMN2 has been observed in preliminary experiments in human and mouse motor neurons affected by SMA.

    What are the researchers aiming to do and why?

    Dr. Nizzardo will look at the role STMN2 may have in the pathogenesis of SMA. In this project both in vitro and in vivo models of SMA will be used to study the role of STMN2 deregulation in the pathogenesis of the disease and to understand if its modulation can be effective in improving the pathological phenotype of SMA.

    How will this work benefit patients?

    The current clinical trials in SMA which target SMN protein levels are showing great promise. Indeed, one such treatment is now available in Europe. Whilst this represents an important milestone for SMA research it is also clear that these strategies fall significantly short of representing a cure for SMA. Therapies that target other/additional cellular and molecular pathways will likely be required to treat the full range of phenotypes and pathology observed in SMA patients across the life-span. STMN2 may prove to be another potential therapeutic target to treat SMA.