Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene mutation leads to poorly understood birth defects

11.05.2016

Scientists have identified genetic mutations that appear to be a key culprit behind a suite of birth defects called ciliopathies, which affect an estimated 1 in 1,000 births. In a paper published online this week in Nature Genetics, a team of researchers led by The University of Texas at Austin's John Wallingford reveals that these mutations prevent certain proteins from working together to smooth the way for cells to communicate with one another.

Birth defects from genetic disorders of the cilia -- tentacle-like structures in cells that coordinate cell-to-cell communication in healthy people -- are varied, ranging from oral-facial-digital syndrome, which can cause extra toes, misshapen teeth, an abnormal tongue and other defects, to short rib polydactyly syndrome, a lethal birth defect that causes every organ in the body to be defective.


Cilia

Credit: John Wallingford

"For cells to talk to each other, functioning cilia are needed," says Wallingford, a professor in the Department of Molecular Biosciences. "We identified a group of proteins that form part of the base that cilia need in order to function. If that base is defective, it can cause serious birth defects that are frequently lethal."

The new research pinpoints how three proteins work together to form a base that allows cilia to carry critical cell-to-cell communications. Wallingford and his colleagues discovered that, much the way that cellphone towers provide a base for the antennas that assist with communication, these proteins together construct a base that anchors the cilia.

Disturbances in the little-known group of proteins, which the researchers called CPLANE, led to disturbed cell communication and observable ciliopathy in mouse models. The team also asked human geneticists to screen for the genes among their patients with similar birth defects and found that mutations in the same genes resulted in ciliopathies in humans.

Wallingford points out that the research is important, given that ciliopathies are more widespread than most people realize. Polycystic kidney disease, for example, which causes the abnormal growth of cysts on kidneys, is a disorder arising from defective cilia and afflicts about 600,000 people in the U.S.

"If you lump ciliopathies, the prevalence is high, and they will become one of the more common congenital diseases," says Wallingford. "Birth defects are an underappreciated problem, and we have little understanding of their genetic underpinnings despite their prevalence, not to mention their environmental underpinnings."

###

This research was funded by the National Institutes of Health and the Howard Hughes Medical Institute. Co-authors of the paper are from the University of California, Los Angeles; FHU TRANSLAD, Burgundy University, France; Stanford University School of Medicine; Boston Children's Hospital, Harvard Medical School; University Hospital Center, Liège, Belgium; Hospital Center, Luxembourg; Universitair Ziekenhuis Brussel, Belgium; Pediatric Centre PGIMER, Chandigarh, India; Federico II University of Naples, Italy; Telethon Institute of Genetics and Medicine, Naples, Italy; Dental Institute, King's College London, U.K.; Stony Brook University, New York; Mendelian Center, University of Washington; and Children Hospital, Dijon, France.

Media Contact

Kristin Elise Phillips
kristin.phillips@austin.utexas.edu
512-232-0654

 @UTAustin

http://www.utexas.edu 

Kristin Elise Phillips | EurekAlert!

Further reports about: birth defects cilia ciliopathies mutations proteins

More articles from Health and Medicine:

nachricht Penn studies find promise for innovations in liquid biopsies
30.03.2017 | University of Pennsylvania School of Medicine

nachricht 'On-off switch' brings researchers a step closer to potential HIV vaccine
30.03.2017 | University of Nebraska-Lincoln

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: A Challenging European Research Project to Develop New Tiny Microscopes

The Institute of Semiconductor Technology and the Institute of Physical and Theoretical Chemistry, both members of the Laboratory for Emerging Nanometrology (LENA), at Technische Universität Braunschweig are partners in a new European research project entitled ChipScope, which aims to develop a completely new and extremely small optical microscope capable of observing the interior of living cells in real time. A consortium of 7 partners from 5 countries will tackle this issue with very ambitious objectives during a four-year research program.

To demonstrate the usefulness of this new scientific tool, at the end of the project the developed chip-sized microscope will be used to observe in real-time...

Im Focus: Giant Magnetic Fields in the Universe

Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.

The results will be published on March 22 in the journal „Astronomy & Astrophysics“.

Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...

Im Focus: Tracing down linear ubiquitination

Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.

Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...

Im Focus: Perovskite edges can be tuned for optoelectronic performance

Layered 2D material improves efficiency for solar cells and LEDs

In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...

Im Focus: Polymer-coated silicon nanosheets as alternative to graphene: A perfect team for nanoelectronics

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

International Land Use Symposium ILUS 2017: Call for Abstracts and Registration open

20.03.2017 | Event News

CONNECT 2017: International congress on connective tissue

14.03.2017 | Event News

ICTM Conference: Turbine Construction between Big Data and Additive Manufacturing

07.03.2017 | Event News

 
Latest News

'On-off switch' brings researchers a step closer to potential HIV vaccine

30.03.2017 | Health and Medicine

Penn studies find promise for innovations in liquid biopsies

30.03.2017 | Health and Medicine

An LED-based device for imaging radiation induced skin damage

30.03.2017 | Medical Engineering

VideoLinks
B2B-VideoLinks
More VideoLinks >>>