Research from University of Utah, Eccles Institute of Human Genetics broadens understanding of spinal muscular atrophy
2007 OCT 8 -- New investigation results, 'Animal models of spinal muscular atrophy,' are detailed in a study published in Journal of Child Neurology. "Spinal muscular atrophy, a common autosomal recessive motor neuron disorder, is caused by the loss of the survival motor neuron gene (SMN1). SMN2, a nearly identical copy gene, is present in all spinal muscular atrophy patients but differs by a critical nucleotide that alters exon 7 splicing efficiency," scientists in the United States report. "This results in low survival motor neuron protein levels, which are not enough to sustain motor neurons. SMN disruption has been undertaken in different organisms (yeast, nematode, fly, zebrafish, and mouse) in an attempt to model this disease and gain fundamental knowledge about the survival motor neuron protein. This review compares the various animal models generated to date and summarizes a research picture that reveals a pleiotropic role for survival motor neuron protein; this summary also points to unique requirements for survival motor neuron protein in motor neurons," wrote A. Schmid and colleagues, University of Utah, Eccles Institute of Human Genetics. The researchers concluded: "It is hoped that these observations will aid in pointing towards complementary paths for therapeutic discovery research.'." Schmid and colleagues published their study in the Journal of Child Neurology (Animal models of spinal muscular atrophy. Journal of Child Neurology, 2007;22(8):1004-12). For more information, contact A. Schmid, University of Utah, Eccles Institute of Human Genetics, Salt Lake City, Utah USA.. Publisher contact information for the Journal of Child Neurology is: B C Decker Inc., 20 Hughson St. South, PO Box 620, L C D 1, Hamilton, Ontario L8N 3K7, Canada. Keywords: United States, Salt Lake City, Charcot-Marie-Tooth Disease, Child Neurology, Neurology, Spinal Muscular Atrophy. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.
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