SMA Europe Call for Projects 2009
SMA Europe fördert die Forschung auf dem Gebiet der Spinalen Muskelatrophie (SMA) 2010 mit 650.000 Euro. Die Initiative SMA beteiligt sich mit 110.000 Euro.
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Prof. Umrao Monani, Columbia Univerity, New York, USA
“Investigating the temporal requirements of the SMN protein in Spinal Muscular Atrophy”
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Prof. Rémy Bordonné, Molecular Genetics Institute of Montpellier, Frankreich
“The S. pombe model organism: a tool to find suppressors of snRNP-mediated splicing defects”
Neuronal degeneration in spinal muscular atrophy (SMA) is caused by reduced expression of the survival of motor neuron (SMN) protein. Together with the PRMT5-pICln complex, the SMN complex machinery is involved in the formation of the Sm proteins heptameric ring and in its association with the snRNAs. Defects in SMN and snRNPs biogenesis contribute to the pathophysiological mechanisms of spinal muscular atrophy. The SMN protein is conserved throughout evolution and a SMN orthologue has been identified in the fission yeast S. pombe. We recently constructed a temperature-degron allele of the fission yeast SMN gene (tdSMN) and found that this allele gives rise to differential snRNPs assembly and splicing defects. Our results indicate that the S. pombe tdSMN allele could mimic snRNP biogenesis and splicing defects observed in smn deficient metazoan cells. In this project, we propose to use this S. pombe model to find suppressors rescuing the snRNPs assembly pathway and splicing defects. Results obtained from these studies will be confirmed in metazoan systems. The extrapolation of the findings to human should help to a better understanding of defects underlying SMA and help to find new strategies to cure this disease. -
Prof. Ke Ning und Prof. Mimoun Azzouz, The University of Sheffield, Großbritannien
“PTEN modulation effects on motor neuron axonal growth and neuromuscular junction size in spinal muscular atrophy”
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Prof. Steve Wilton, University of Western Australia, Australien
“Antisense oligomer induced restoration of SMN expression as a therapy for Spinal Muscular Atrophy”
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Dr. Rachel Nlend Nlend, Universität Bern, Schweiz
“Gene therapy for spinal muscular atrophy by a correction of SMN2 mRNA splicing”
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Dr. Beatrice Joussemet, INSERM, Université de Nantes, Frankreich
“Evaluation of new AAV-mediated gene therapy strategies in a feline model of Spinal Muscular Atrophy”
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Dr. Claudia Fallini, Emory University, Atlanta, USA
“Analysis of mRNA transport and local protein synthesis in axons of SMA motor neurons”