Year: 2014
Type: article
Abstract: Spinal muscular atrophy (SMA) remains one of the most common and lethal autosomal recessive diseases. Homozygous deletion of survival of motor neuron 1 (SMN1) and resulting SMN protein deficiency manifests predominantly with motor neuron degeneration; however, a wealth of emerging data supports a broader influence of SMN deficiency in disease pathogenesis. In this issue of the JCI, Kariya and colleagues demonstrate the relatively selective impact of SMN depletion on the distal motor unit using a series of SMN2-expressing transgenic mice in which constitutive SMN knockdown follows variable periods of normal development. Their observations provide further insights regarding the temporal requirements for SMN in mice, renewing speculation about when and where repletion of SMN is necessary for optimal outcomes in SMA patients.
DOI: 10.1172/jci74142
Author: Kathryn J. Swoboda
Institutions: Pennington Biomedical Research Center, University of Utah
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Funders: Office of Dietary Supplements, Louisiana Clinical and Translational Science Center, National Institutes of Health, U.S. Public Health Service, National Institute of General Medical Sciences, National Center for Complementary and Alternative Medicine, National Center for Complementary and Integrative Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: Botanicals and Metabolic Resiliency , G3450668941, G3667826151, G4370236196, G4465362182, Therapeutic Opportunities in Spinal Muscular Atrophy, G5850863802, G5888706268, G6327323239, Newborn screening for identification & prospective followup of infants with SMA, G9000311072, Louisiana Clinical and Translational Science Center, G960050175
OpenAlex ID: W2051377088