Cutting and pasting enormous chunks of DNA into the chromosomes of mice, scientists have uncovered at least one genetic cause for a spectrum of urinary tract disorders, the most common survivable congenital defects in humans. The finding, published in the November 16 issue of EMBO Journal, links a previously studied gene, called GATA-2, with ensuring the proper development of the genitourinary tract. From earlier work, scientists already knew that GATA-2 is critical for the formation of blood.
The discovery paves the way for researchers to identify diagnostic and/or treatment strategies to combat a variety of bladder and kidney disorders in newborns, most notably a condition called hydroureteronephrosis, a physiological plumbing problem in which urine cannot make its way to the bladder because of an anatomical defect in the tubes (ureters) that connect the kidney to the bladder.
"This is a great example of how a basic research project can serendipitously lead to a better understanding of the cause of a common human birth defect," said Dr. Judith Greenberg, director of the Division of Genetics and Developmental Biology at the National Institute of General Medical Sciences, which provided funding for the study.
Despite its unfamiliar-sounding name, hydroureteronephrosis is a prevalent malady. One in 200 babies has the disorder, which is usually diagnosed by prenatal ultrasound screening and in many cases can be surgically repaired. Nevertheless, scientists don't understand the underlying cause of the problem.
But while the disease-related implications of the finding may be readily apparent, Dr. Douglas Engel of Northwestern University, who led the study, is excited about the more general, but profound, impact his team's discovery will have on the larger task of ascribing genes to functions in the developing mouse--and almost certainly human--embryo.
Until now, no one would have suspected that the GATA-2 protein did anything
besides helping the dev
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Contact: Alison Davis
davisa@nigms.nih.gov
301-496-7301
NIH/National Institute of General Medical Sciences
16-Nov-1998