Cause of cystic kidneys explained

September 6, 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.

Nephronophthisis (NPH) is the most common inherited 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. This confirmed that ANKS6 is a novel NPH-disease gene.

The patients suffered from early onset cystic kidney disease and structural . Further analysis revealed that ANKS6 also forms a with three other NPH proteins (INVS, NPHP3, and NEK8) at the , a hair-like structure on the surface of many cells. The formation of this network is regulated by the enzyme HIF1AN. This is the first time that the assembly of NPH proteins has been described as a dynamic process. Thus, the finding sheds some light on how the binding of multiple NPH proteins can be regulated. This can serve as a basis for investigating the function of NPH protein groups in kidney cells, which will improve our understanding of the disease on the cellular level.

Explore further: No increased cancer risk with glargine versus human insulin

More information: Hoff, S. et al. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3, Nat Genet, 2013 Aug;45(8):951-6. DOI: 10.1038/ng.2681. Epub 2013 Jun 23.

Related Stories

No increased cancer risk with glargine versus human insulin

August 6, 2013
(HealthDay)—There is no evidence that patients with diabetes who initiate insulin glargine have a higher risk of cancer than similar patients initiating human neutral protamine Hagedorn (NPH) insulin, according to a study ...

Megabladder mouse model may help predict severity of pediatric kidney damage

September 4, 2013
A new study of the megabladder mouse model suggests that tracking changes in the expression of key genes involved in kidney disease could help physicians predict the severity of urinary tract obstruction in pediatric patients, ...

Research findings point to new therapeutic approach for common cause of kidney failure

September 5, 2013
New research has uncovered a process that is defective in patients with autosomal dominant polycystic kidney disease, a common cause of kidney failure. The findings, which appear in an upcoming issue of the Journal of the ...

Surprising mechanism discovered in polycystic kidney disease

July 29, 2013
A study by Yale researchers has uncovered a new and unexpected molecular mechanism in the development of polycystic kidney disease, or PKD. The study appears in Nature Genetics.

Recommended for you

Scientists provide insight into genetic basis of neuropsychiatric disorders

July 21, 2017
A study by scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) is providing insight into the genetic basis of neuropsychiatric disorders. In this research, the first mouse model of a mutation ...

Scientists identify new way cells turn off genes

July 19, 2017
Cells have more than one trick up their sleeve for controlling certain genes that regulate fetal growth and development.

South Asian genomes could be boon for disease research, scientists say

July 18, 2017
The Indian subcontinent's massive population is nearing 1.5 billion according to recent accounts. But that population is far from monolithic; it's made up of nearly 5,000 well-defined sub-groups, making the region one of ...

Mutant yeast reveals details of the aberrant genomic machinery of children's high-grade gliomas

July 18, 2017
St. Jude Children's Research Hospital biologists have used engineered yeast cells to discover how a mutation that is frequently found in pediatric brain tumor high-grade glioma triggers a cascade of genomic malfunctions.

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

Newly discovered gene variants link innate immunity and Alzheimer's disease

July 17, 2017
Three new gene variants, found in a genome wide association study of Alzheimer's disease (AD), point to the brain's immune cells in the onset of the disorder. These genes encode three proteins that are found in microglia, ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.