Cardiovascular and organ pathology in spinal muscular atrophy

About the project

Spinal muscular atrophy is a fatal, childhood form of motor neurone disease, where death of the motor neurones results in paralysis followed by respiratory failure and premature death.

It is now clear that the cell-ubiquitous depletion of the SMN protein which is the cause of spinal muscular atrophy, results in a wide range of tissue pathologies beyond the motor neurone. Our work has revealed the extent of these systemic defects and is beginning to appreciate how they impact upon the disease. We are particularly interested in the cardiovascular system, as heart and vessel defects are reported in patients and animal models of the disease. Our work is focussed on understanding how SMN-depletion causes defective angiogenesis which leads to poor vascularisation, reduced tissue perfusion and cell hypoxia.

Funder(s)

SMA Europe

Publication(s)

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. 2016 Feb;79(2):217-30

Primary location

Aberdeen

Principal Investigator

Other people involved

Prof Francesco Muntoni and Dr Haiyan Zhou at University College London

Prof Tom Gilllingwater and Dr Tom Wishart at University of Edinburgh

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