Findings from INSERM in pathology reported
2007 OCT 30 -- A new study, 'Refined characterization of the expression and stability of the SMN gene products,' is now available. According to recent research published in the American Journal of Pathology, "'Spinal muscular atrophy (SMA) is characterized by degeneration of lower motor neurons and caused by mutations of the SMN1 gene. SMN1 is duplicated in a homologous gene called SMN2, which remains present in patients." "SMN has an essential role in RNA metabolism, but its role in SMA pathogenesis remains unknown. Previous studies suggested that in neurons the protein lacking the C terminus (SMN(Delta7)), the major product of the SMN2 gene, had a dominant-negative effect. We generated antibodies specific to SMN(FL) or SMN(Delta7). In transfected cells, the stability of the SMN(Delta7) protein was regulated in a cell-dependent manner. Importantly, whatever the human tissues examined, SMN(Delta7) protein was undetectable because of the instability of the protein, thus excluding a dominant effect of SMN(Delta7) in SMA. A similar decreased level of SMN(FL) was observed in brain and spinal cord samples from human SMA, suggesting that SMN(FL) may have specific targets in motor neurons. Moreover, these data indicate that the vulnerability of motor neurons cannot simply be ascribed to the differential expression or a more dramatic reduction of SMN(FL) in spinal cord when compared with brain tissue," wrote J. Vitte and colleagues, INSERM. The researchers concluded: "Improving the stability of SMN(Delta7) protein might be envisaged as a new therapeutic strategy in SMA." Vitte and colleagues published their study in American Journal of Pathology (Refined characterization of the expression and stability of the SMN gene products. American Journal of Pathology, 2007;171(4):1269-80). For additional information, contact J. Vitte, Molecular Neurogenetics Laboratory, INSERM U798, Evry and Paris 11 Universities, Evry, France. The publisher's contact information for the American Journal of Pathology is: American Society Investigative Pathology, Inc., 9650 Rockville Pike, Bethesda, MD 20814-3993, USA. Keywords: France, Evry, Pathology. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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