Vascular Defects May Contribute to Spinal Muscular Atrophy

Spinal muscular atrophy is a fatal childhood motor neuron disease, which affects approximately 1 in 6000 infants. According to a report in the Oct 27 Annals of Neurology online, impaired blood supply to skeletal muscles and the spinal cord may play a major role in disease pathophysiology. Simon Parson from the University of Aberdeen in the UK, together with colleagues from Oxford University, University College London, and University of Edinburgh in Scotland, examined the vasculature in the skeletal muscle and spinal cord of mouse models of SMA, as well as in muscle biopsies from human SMA patients. The vasculature was depleted in both mice and humans, and in the SMA model mice it was accompanied by evidence of hypoxia and a disrupted blood spinal cord barrier. These findings open a new line of inquiry that could advance research and therapy development for SMA.
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Somers E, Lees RD, Hoban K, Sleigh JN, Zhou H, Muntoni F, Talbot K, Gillingwater TH, Parson SH. Vascular defects and spinal cord hypoxia in spinal muscular atrophy. Ann Neurol. 2015 Oct 27.doi: 10.1002/ana.24549. [Pubmed]

disease-sma human tissue and iPSCs topic-preclinical
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