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UT Southwestern researchers discover link that could aid in treatment of kidney cyst diseases

that the PKHD1 promoter was directly regulated by the HNF-1 protein.

"Mutations in HNF-1, the cause of MODY5, interfere with the transcription of PKHD1, a gene known to be mutated in autosomal recessive polycystic kidney disease," said Dr. Thomas Hiesberger, assistant professor of internal medicine and the study's lead author. "This link may allow for similar future therapeutic approaches for both diseases."

At this point, little is known about how inhibition of PKHD1 causes cysts. That is the next step for the researchers and will provide new insight into how both MODY5 and the kidney disease develop.

Other UT Southwestern internal medicine contributors to the study were Dr. Xinli Shao, postdoctoral researcher; Yun Bai, senior research associate; Brian McNally, student research assistant; and Dr. Angus M. Sinclair, former assistant professor. Drs. Xin Tian and Stefan Somlo from Yale University School of Medicine also contributed.


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Contact: Scott Maier
scott.maier@utsouthwestern.edu
214-648-3404
UT Southwestern Medical Center
15-Mar-2004


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