Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/90474
Title: Genome-wide expression analysis of a spinal muscular atrophy model : towards discovery of new drug targets
Authors: Lee, Sheena
Sayin, Arzu
Cauchi, Ruben J.
Grice, Stuart
Burdett, Howard
Baban, Dilair
van den Heuvel, Marcel
Keywords: Genetics
Diptera
Diseases -- Animal models
Genomes
Spinal muscular atrophy
Nerve tissue proteins
Nucleic acid hybridization
Oligonucleotides
Polymerase chain reaction
RNA-Binding proteins
Proteins
Motor neurons
Issue Date: 2008
Publisher: Public Library of Science
Citation: Lee, S., Sayin, A., Cauchi, R. J., Grice, S., Burdett, H., Baban, D., & van den Heuvel, M. (2008). Genome-wide expression analysis of a spinal muscular atrophy model: towards discovery of new drug targets. PLoS One, 3(1), e1404.
Abstract: Spinal Muscular Atrophy is a recessive genetic disease and affects lower motor neurones and muscle tissue. A single gene is disrupted in SMA: SMN1 activity is abolished but a second copy of the gene (SMN2) provides limited activity. While the SMN protein has been shown to function in the assembly of RNA-protein complexes, it is unclear how the overall reduction in SMN activity specifically results in the neuromuscular phenotypes. Similar to humans, reduced smn activity in the fly causes earliest phenotypes in neuromuscular tissues. To uncover the effects of reduced SMN activity, we have studied gene expression in control and diseased fly tissues using whole genome micro-arrays. A number of gene expression changes are recovered and independently validated. Identified genes show trends in their predicted function: several are consistent with the function of SMN, in addition some uncover novel pathways. This and subsequent genetic analysis in the fly indicates some of the identified genes could be taken for further studies as potential drug targets for SMA and other neuromuscular disorders.
URI: https://www.um.edu.mt/library/oar/handle/123456789/90474
Appears in Collections:Scholarly Works - FacM&SPB

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