Principal Investigators

    BURNETT, BARRINGTON G

    Institution

    HENRY M. JACKSON FDN FOR THE ADV MIL/MED

    Contact information of lead PI

    Country

    USA

    Title of project or programme

    Targeting the Ubiquitin Proteasome System to Treat Spinal Muscular Atrophy

    Source of funding information

    NIH (NINDS)

    Total sum awarded (Euro)

    € 1,365,219.27

    Start date of award

    01/04/2016

    Total duration of award in years

    5

    The project/programme is most relevant to:

    Spinal muscular atrophy (SMA)

    Keywords

    SMN protein , Spinal Muscular Atrophy, multicatalytic endopeptidase complex, Ubiquitin, Motor Neurons

    Research Abstract

    ? DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) is the most common inherited cause of death in infants and young children. SMA is caused by the deletion or mutation in the survival of motor neuron 1 (SMN1) gene, leading to a deficiency of the ubiquitously expressed SMN protein. Currently, there is no effective treatment option available for SMA. Evidence from studies in humans and rodents suggests that increasing SMN protein levels in the central nervous system is sufficient to ameliorate the disease phenotype and prolong survival. To identify protective modifiers of SMN protein levels we performed a genome-wide RNAi screen. Genes we identified in this screen will allow us to investigate genetic modifiers and molecular pathways that regulate SMN protein levels. These targets and pathways should provide novel avenues for therapeutic development for the treatment of SMA.

    Lay Summary

    PUBLIC HEALTH RELEVANCE: Spinal muscular atrophy (SMA) is a motor neuron disease and one of the leading inherited causes of infant mortality, affecting about 1 in 8000 live births. The disease is caused by deficiency of the survival motor neuron (SMN) protein and there is currently no effective treatment. The studies outlined in this proposal will identify genetic modifiers of SMN protein levels and define the molecular mechanisms regulating SMN protein stability in order to find new therapeutic targets for treating SMA.

    Further information available at:

Types: Investments > €500k
Member States: United States of America
Diseases: Spinal muscular atrophy (SMA)
Years: 2016
Database Categories: N/A
Database Tags: N/A

Export as PDF