Targeting the Ubiquitin Proteasome System to Treat Spinal Muscular Atrophy

NIH RePORTER · NIH · R01 · $303,692 · view on reporter.nih.gov ↗

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.

Key facts

NIH application ID
9853054
Project number
5R01NS091575-05
Recipient
HENRY M. JACKSON FDN FOR THE ADV MIL/MED
Principal Investigator
Barrington G Burnett
Activity code
R01
Funding institute
NIH
Fiscal year
2020
Award amount
$303,692
Award type
5
Project period
2016-04-01 → 2021-12-31