Featured Research

from universities, journals, and other organizations

More insight into Sensenbrenner syndrome

March 16, 2011
Dutch Kidney Foundation
Dutch researchers have found a new gene for Sensenbrenner syndrome. The mutation adds support to the hypothesis that defects in ciliar transport are the cause of the disease.

Dutch researchers of the Radboud University Medical Center in Nijmegen have found a new gene for Sensenbrenner syndrome. The mutation adds support to the hypothesis that defects in ciliar transport are the cause of the disease. Project leader Dr. Heleen H. Arts is supported by a Kolff Junior Postdoc Grant of the Dutch Kidney Foundation.

Sensory Organelle

Ciliary disease disrupts the cilia, small hairlike organelles that jut out from the cell membrane. Cilia are involved in many important processes, for instance the sensing of fluid streams inside kidney tubules or the registration of light in the light-sensitive cells of the eye. They are antennas that pick up signals that are essential for the cell to react to outside conditions.

The newly found gene codes for IFT43, a protein of the intraflagellar transport complex. This is responsible for the transport of molecules within the cilia. Two genes that were earlier proven to be implicated are also part of the IFT. One of these was found and published last year by the same research group.

Flawed Transport

According to Dr. Arts, "this third IFT gene strengthens the existing hypothesis that the retrograde transport, from the cilium tip back down to the cell, is affected." She adds that the study is the first to show the IFT defects in cels from Sensenbrenner patients.

The IFT proteins are little molecular trains running along the cilium backbone of microtubules from the cell membrane up and back. They carry the cargo that is necessary for the cilia to function properly.

"We have quite some knowledge about IFT proteins complexes," says Arts. "For instance, the IFT-A complex consists of six proteins and takes care of the retrograde transport. However, the structure of some of the proteins is largely unknown."

When downward transport is compromised the tip of the cilium will swell and cilium function is impaired. "IFT57 molecules get trapped in the cilium tip," explains Arts. "This is one of the proteins that is involved in the upward transport."

Finding Answers

There is no cure at hand for ciliary syndromes like Sensenbrenner's. "Understanding the causes is the first step towards therapy," underlines Heleen Arts. "My research is important for improving diagnosis of the disease and for better genetic counseling. I think it is going to take years to develop effective treatment."

Further research is aimed at increasing the knowledge of the genetic background and explaining the mechanisms. Arts: "What exactly happens when the cilium is not functioning optimally? Why is the transport disrupted? Why do these defects result in renal failure? I would like to get an answer to these questions."


For a long time, cilia were viewed as rudimentary cell parts left over by evolution. Today, researchers and doctors realise that faulty cilia are an important cause of serious ailments like Polycystic Kidney Disease and rare syndromes like Sensenbrenner's. Together, these are termed ciliopathies.

Sensenbrenner syndrome is a rare ciliopathy that causes skeletal and ectodermal defects and kidney problems (the ectoderm is the outermost cell layer in the embryo and gives rise to among others skin tissue and nails, nerve tissue, teeth and eye lens). Symptoms are for instance too early closure of skull sutures (craniosynostosis), malformations of the arms and legs or fingers and toes, defects of hair nails and skin, and progressive renal failure. It is a rare condition that is part of a range of overlapping related congenital ciliary syndromes.

Story Source:

The above story is based on materials provided by Dutch Kidney Foundation. Note: Materials may be edited for content and length.

Journal Reference:

  1. H. H. Arts, E. M. H. F. Bongers, D. A. Mans, S. E. C. van Beersum, M. M. Oud, E. Bolat, L. Spruijt, E. A. M. Cornelissen, J. H. M. Schuurs-Hoeijmakers, N. de Leeuw, V. Cormier-Daire, H. G. Brunner, N. V. A. M. Knoers, R. Roepman. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. Journal of Medical Genetics, 2011; DOI: 10.1136/jmg.2011.088864

Cite This Page:

Dutch Kidney Foundation. "More insight into Sensenbrenner syndrome." ScienceDaily. ScienceDaily, 16 March 2011. <www.sciencedaily.com/releases/2011/03/110314092003.htm>.
Dutch Kidney Foundation. (2011, March 16). More insight into Sensenbrenner syndrome. ScienceDaily. Retrieved July 30, 2014 from www.sciencedaily.com/releases/2011/03/110314092003.htm
Dutch Kidney Foundation. "More insight into Sensenbrenner syndrome." ScienceDaily. www.sciencedaily.com/releases/2011/03/110314092003.htm (accessed July 30, 2014).

Share This

More Health & Medicine News

Wednesday, July 30, 2014

Featured Research

from universities, journals, and other organizations

Featured Videos

from AP, Reuters, AFP, and other news services

Health Insurers' Profits Slide

Health Insurers' Profits Slide

Reuters - Business Video Online (July 30, 2014) Obamacare-related costs were said to be behind the profit plunge at Wellpoint and Humana, but Wellpoint sees the new exchanges boosting its earnings for the full year. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
Concern Grows Over Worsening Ebola Crisis

Concern Grows Over Worsening Ebola Crisis

AFP (July 30, 2014) Pan-African airline ASKY has suspended all flights to and from the capitals of Liberia and Sierra Leone amid the worsening Ebola health crisis, which has so far caused 672 deaths in Guinea, Liberia and Sierra Leone. Duration: 00:43 Video provided by AFP
Powered by NewsLook.com
At Least 20 Chikungunya Cases in New Jersey

At Least 20 Chikungunya Cases in New Jersey

AP (July 30, 2014) At least 20 New Jersey residents have tested positive for chikungunya, a mosquito-borne virus that has spread through the Caribbean. (July 30) Video provided by AP
Powered by NewsLook.com
Xtreme Eating: Your Daily Caloric Intake All On One Plate

Xtreme Eating: Your Daily Caloric Intake All On One Plate

Newsy (July 30, 2014) The Center for Science in the Public Interest released its 2014 list of single meals with whopping calorie counts. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.


Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

    Environment News

    Technology News


      Free Subscriptions

      Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

      Get Social & Mobile

      Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

      Have Feedback?

      Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
      Mobile: iPhone Android Web
      Follow: Facebook Twitter Google+
      Subscribe: RSS Feeds Email Newsletters
      Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins