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Study results from S.A. Cook et al provide new insights into life sciences
2009 MAY 25 - (NewsRx.com) -- According to recent research from the United States, "Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic kidney disease. Other malformations associated with MKS3 include cystic changes in the liver, polydactyly, and brain abnormalities (occipital encephalocele, hydrocephalus, and Dandy Walker-type cerebellar anomalies)." "The disorder is hypothesized to be caused by defects in primary cilia. In humans, the underlying mutated gene, TMEM67, encodes transmembrane protein 67, also called meckelin (OMIM 609884), which is an integral protein of the renal epithelial cell and membrane of the primary cilium. Here, we describe a spontaneous deletion of the mouse ortholog, Tmem67, which results in polycystic kidney disease and death by 3 wk after birth. Hydrocephalus also occurs in some mutants. We verified the mutated gene by transgenic rescue and characterized the phenotype with microcomputed tomography, histology, scanning electron microscopy, and immunohistochemistry," wrote S.A. Cook and colleagues. The researchers concluded: "This mutant provides a mouse model for MKS3 and adds to the growing set of mammalian models essential for studying the role of the primary cilium in kidney function." Cook and colleagues published their study in the Journal of the American Society of Nephrology (A Mouse Model for Meckel Syndrome Type 3. Journal of the American Society of Nephrology, 2009;20(4):753-764). For additional information, contact M.T. Davisson, Jackson Laboratory, 600 Main St., Bar Harbor, ME 04609, USA. Publisher contact information for the Journal of the American Society of Nephrology is: American Society Nephrology, 1725 I St., NW Ste. 510, Washington, DC 20006, USA. Keywords: United States, Bar Harbor, Life Sciences, Hydrocephalus, Central Nervous System Disease, Polycystic Kidney Disease, Encephalocele, Polydactyly, Meckel Syndrome, Nephrology. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2009, Pain & Central Nervous System Week via NewsRx.com.
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