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Research from R.G. Delmastro and co-authors provides new data about asthma
2007 NOV 21 -- "ADAM33 has been identified as an asthma-associated gene in an out-bred population. Genetic studies suggested that the functional role of this metalloprotease was in airway remodeling," investigators in the United States report. "However, the mechanistic roles of the disease-associated SNPs have yet to be elucidated especially in the context of the pathophysiology of asthma. One disease-associated SNP, BC+1, which resides in intron BC toward the 5' end of ADAM33, is highly associated with the disease The region surrounding this genetic variant was cloned into a model system to determine if there is a regulatory element within this intron that influences transcription The BC+1 protective allele did not impose any affect on the transcription of the reporter gene. However, the at-risk allele enforced such a repressive affect on the promoter that no protein product from the reporter gene was detected. These results indicated that there exists within intron BC a regulatory element that acts as a repressor for gene expression. Moreover, since SNP BC+1 is a common genetic variant, this region may interact with other undefined regulatory elements within ADAM33 to provide a rheostat effect, which modulates pre-mRNA processing," wrote R.G. Delmastro and colleagues. The researchers concluded: "Thus, SNP BC+1 may have an important role in the modulation of ADAM33 gene expression These data provide for the first time a functional role for a disease-associated SNP in ADAM33 and begin to shed light on the deregulation of this gene in the pathophysiology of asthma." Delmastro and colleagues published their study in BMC Medical Genetics (Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene. BMC Medical Genetics, 2007;8():46). For additional information, contact R.G. Delmastro, AmberGeneral Inc., Molecular Theoret Division, Waltham, MA 02453, USA. The publisher of the journal BMC Medical Genetics can be contacted at: Biomedical Central Ltd., Middlesex House, 34-42 Cleveland St., London W1T 4LB, England. Keywords: United States, Waltham, Allergies, Allergy Medicine, Asthma. This article was prepared by Immunotherapy Weekly editors from staff and other reports. Copyright 2007, Immunotherapy Weekly via NewsRx.com.
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