Cause of cystic kidneys explained: Novel gene responsible for cystic kidney disease in children identified

Cause of cystic kidneys explained: Novel gene responsible for cystic kidney disease in children identified

Scientists have identified a new gene that causes cystic kidneys in children and young adults. The research group’s results lead to the identification of novel insights into the molecular mechanism underlying NPH, which is a prerequisite for developing pharmacological targets and new therapies for children with nephronophthisis.

via ScienceDaily: Top Health News:

Sep. 5, 2013 — Sylvia Hoff, a graduate student from the Spemann Graduate School of Biology and Medicine (SGBM), has identified a new gene that causes cystic kidneys in children and young adults. The work by the PhD student Sylvia Hoff and her international collaboration partners was published in the scientific journal Nature Genetics. The research group’s results lead to the identification of novel insights into the molecular mechanism underlying NPH, which is a prerequisite for developing pharmacological targets and new therapies for children with nephronophthisis.Share This:Nephronophthisis (NPH) is the most common inherited kidney disease that leads to renal failure in children. The kidneys of affected children develop cysts, and as there is no approved therapy yet, patients need dialysis and renal transplantation. In addition, NPH often affects other organs apart from the kidney, such as the eyes, the liver, or the brain.The PhD student Sylvia Hoff, together with Dr. Soeren Lienkamp of the Nephrology Department at the Freiburg University Medical Center headed by Prof. Gerd Walz, analyzed the function of NPH proteins during early developmental processes. They found that the ANKS6 protein has functions similar to those of some of the known NPH proteins. In collaboration with research groups in France, USA, Denmark, Switzerland, Egypt, the Netherlands, and Germany, they succeeded in identifying mutations in the ANKS6 gene of children with NPH. …

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ScienceDaily: Top Health News

Cause of cystic kidneys explained: Novel gene responsible for cystic kidney disease in children identified

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