05:04pm Thursday 14 December 2017

Researchers identify genetic mechanism involved in common urinary tract birth defect

This abnormality is called hydronephrosis. In 20 to 30 per cent of cases it can become a serious medical problem and in extreme cases can lead to infant renal failure.  Testing for this defect is often invasive and can be stressful for both the babies and their caregivers. Researchers at The Hospital for Sick Children (SickKids) have uncovered a mechanism that could be responsible for development of this defect. The study was published in the Feb.21 online edition of The Journal of Clinical Investigation

“To my knowledge this is the first study of its kind to identify a molecular pathway that results in the most common form of hydronephrosis usually observed during pregnancy and after birth,” says Dr. Norman Rosenblum, the senior author of this study, Staff Nephrologist and Senior Scientist at SickKids. “This discovery could shift the current diagnosis practice and potentially lead to less invasive testing and alternative treatment.” 

The urinary tract is composed of two kidneys, two ureters and the bladder. The ureters are muscular tubes that contract to push urine down into the bladder. Researchers studied abnormal, enlarged urinary tracts in mice and found extremely low levels of two particular proteins called Kit and Hcn3, expressed in particular types of cells that initiate ureter contraction. The absence of these proteins was associated with abnormal ureter contraction associated with hydronephrosis. Further investigation revealed a molecular pathway or a network of proteins involved in the production of Kit and Hcn3. They found that a protein called GLI3 could be responsible for the abnormal protein levels.

“If we understand the genetic mechanisms underlying this problem, not only would we be able to circumvent invasive tests, by taking a blood sample to analyze DNA, but one day it may be possible to treat this by replenishing the cells that control ureter contraction,” says Rosenblum who is also Professor and Associate Dean of Physician Scientist Training at the University of Toronto.

This study is supported by grants from the Canadian Institutes of Health Research, The Kidney Foundation of Canada and SickKids Foundation.

About The Hospital for Sick Children
The Hospital for Sick Children (SickKids) is recognized as one of the world’s foremost paediatric health-care institutions and is Canada’s leading centre dedicated to advancing children’s health through the integration of patient care, research and education. Founded in 1875 and affiliated with the University of Toronto, SickKids is one of Canada’s most research-intensive hospitals and has generated discoveries that have helped children globally.  Its mission is to provide the best in complex and specialized family-centred care; pioneer scientific and clinical advancements; share expertise; foster an academic environment that nurtures health-care professionals; and champion an accessible, comprehensive and sustainable child health system.  SickKids is proud of its vision of Healthier Children. A Better World.™ For more information, please visit www.sickkids.ca

About SickKids Research & Learning Tower
SickKids Research & Learning Tower will bring together researchers from different scientific disciplines and a variety of clinical perspectives, to accelerate discoveries, new knowledge and their application to child health — a different concept from traditional research building designs.  The Tower will physically connect SickKids science, discovery and learning activities to its clinical operations.  Designed by award-winning architects Diamond + Schmitt Inc. and HDR Inc. with a goal to achieve LEED® Gold Certification for sustainable design, the Tower will create an architectural landmark as the eastern gateway to Toronto’s Discovery District.  SickKids Research & Learning Tower is funded by a grant from the Canada Foundation for Innovation and community support for the ongoing fundraising campaign. For more information, please visit www.buildsickkids.com.

For more information, please contact:

Matet Nebres
Manager, Media Relations
Communications and Public Affairs
The Hospital for Sick Children
Phone: 416-813-6380
Fax: 416-813-5328
email: matet.nebres@sickkids.ca

Caitlin McNamee-Lamb
Communications Specialist
Communications and Public Affairs
The Hospital for Sick Children
Phone: 416-813-7654 ext. 1436
Fax: 416-813-5328
email: caitlin.mcnamee-lamb@sickkids.ca


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