Work

Of SMN in mice and men: a therapeutic opportunity

Year: 2011

Type: article

Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that predominantly affects motor neurons, resulting in progressive muscular atrophy and weakness. SMA arises due to insufficient survival motor neuron (SMN) protein levels as a result of homozygous disruption of the SMN1 gene. SMN upregulation is a promising and potent treatment strategy for this currently incurable condition. In this issue of the JCI, two independent research groups report novel observations in mouse models of severe SMA that provide hope that this approach will afford meaningful benefit to individuals with SMA.

Source: Journal of Clinical Investigation

DOI: 10.1172/jci58752

Author: Kathryn J. Swoboda

Institution: University of Utah

Language: English

Topic: Neurogenetic and Muscular Disorders Research

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Muscular Dystrophy Association, FightSMA, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development