Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Faulty gene stops cell 'antennae' from transmitting

31.05.2010
An international group of researchers has identified the genetic cause of an inherited condition that causes severe fetal abnormalities.

The work, co-led by geneticists at the UCSD Institute for Genomic Medicine, together with colleagues from institutes and universities in Paris, Rome and England, should allow couples at risk of conceiving babies with the profoundly disabling Meckel-Gruber and Joubert syndromes to be identified beforehand through genetic screening.

The researchers' findings – which show how the disease gene stops cells' finger-like antennae or 'cilia' from detecting and relaying information – may ultimately lead to treatments for more common related disorders, such as spina bifida, retinal blindness and polycystic kidney disease. The paper will be published May 30 issue in Nature Genetics.

"By understanding the science behind this relatively rare condition, we can gain insight into other pediatric diseases that are far more frequent," said UCSD researcher Joseph Gleeson, MD, professor of neurosciences and pediatrics at UC San Diego School of Medicine and Howard Hughes Medical Institute Investigator, who directed the research. "Spina bifida, for example, is one of the most common birth defects, affecting one in every 1000 newborns."

Meckel-Gruber syndrome and Joubert syndrome are part of a wider family of disorders known as 'ciliopathies' – so-called because the cilia are not working as they should and do not respond properly to signals.

This lack of communication can prevent growing embryos from developing a correct neural tube, which leads to abnormalities of the brain. Affected embryos can also develop abnormalities in the eyes, extra fingers or toes, and multiple cysts in their kidneys.

"These abnormalities are often observed in prenatal ultrasounds, but expectant parents want to have a sense of what their child will be like, will he or she learn to walk, talk, and see," said lead author Professor Enza Maria Valente from the Mendel Institute in Rome. "This type of research can give us answers to these important questions."

To find the gene responsible for Meckel-Gruber and Joubert syndromes, the researchers examined DNA from families with a history of the disorder, from skin cells donated by patients, and from cells grown in the laboratory. They also studied zebrafish, which were used because the embryos are transparent during development.

The work identified a previously unknown gene – TMEM216 – as a cause of Meckel-Gruber and Joubert syndromes. They also showed that the faulty TMEM216 gene stopped cells from making a protein that is needed for cilia signalling.

Because Meckel-Gruber and Joubert syndromes are recessive genetic disorders, only couples who both have a copy of the disease gene are at risk of conceiving babies with these birth defects. The condition is more common in certain close-knit populations where the gene has been passed down from generation to generation. These include families of Ashkenazi Jewish origin.

"Accurate genetic testing for TMEM216 will be particularly important for families throughout the world that have a history of ciliopathies caused by mutations to this gene," said Professor Attie-Bittach from the University of Paris.

"Now that we have identified a gene that causes Meckel-Gruber syndrome and Joubert syndrome, the role of particular signalling pathways as the embryo is developing can also be more clearly understood," added Professor Colin Johnson from the University of Leeds in the UK.

Additional contributors from the Neurogenetics Laboratory, Institute for Genomic Medicine, Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute at UC San Diego include Jeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, Jerlyn C Tolentino and Dominika Swistun.

This work was supported by the National Institutes of Health, the Italian Ministry of Health, Pierfranco and Luisa Mariani Foundation, American Heart Association, BDF Newlife, the Medical Research Council and the Sir Jules Thorn Charitable Trust, l'Agence National pour la Recherche, Burroughs Wellcome Fund, Howard Hughes Medical Institute and a National Research Service Award fellowship.

Media contact: Debra Kain, 619-543-6163, ddkain@ucsd.edu

Debra Kain | EurekAlert!
Further information:
http://www.ucsd.edu

More articles from Life Sciences:

nachricht More genes are active in high-performance maize
19.01.2018 | Rheinische Friedrich-Wilhelms-Universität Bonn

nachricht How plants see light
19.01.2018 | Albert-Ludwigs-Universität Freiburg im Breisgau

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Artificial agent designs quantum experiments

On the way to an intelligent laboratory, physicists from Innsbruck and Vienna present an artificial agent that autonomously designs quantum experiments. In initial experiments, the system has independently (re)discovered experimental techniques that are nowadays standard in modern quantum optical laboratories. This shows how machines could play a more creative role in research in the future.

We carry smartphones in our pockets, the streets are dotted with semi-autonomous cars, but in the research laboratory experiments are still being designed by...

Im Focus: Scientists decipher key principle behind reaction of metalloenzymes

So-called pre-distorted states accelerate photochemical reactions too

What enables electrons to be transferred swiftly, for example during photosynthesis? An interdisciplinary team of researchers has worked out the details of how...

Im Focus: The first precise measurement of a single molecule's effective charge

For the first time, scientists have precisely measured the effective electrical charge of a single molecule in solution. This fundamental insight of an SNSF Professor could also pave the way for future medical diagnostics.

Electrical charge is one of the key properties that allows molecules to interact. Life itself depends on this phenomenon: many biological processes involve...

Im Focus: Paradigm shift in Paris: Encouraging an holistic view of laser machining

At the JEC World Composite Show in Paris in March 2018, the Fraunhofer Institute for Laser Technology ILT will be focusing on the latest trends and innovations in laser machining of composites. Among other things, researchers at the booth shared with the Aachen Center for Integrative Lightweight Production (AZL) will demonstrate how lasers can be used for joining, structuring, cutting and drilling composite materials.

No other industry has attracted as much public attention to composite materials as the automotive industry, which along with the aerospace industry is a driver...

Im Focus: Room-temperature multiferroic thin films and their properties

Scientists at Tokyo Institute of Technology (Tokyo Tech) and Tohoku University have developed high-quality GFO epitaxial films and systematically investigated their ferroelectric and ferromagnetic properties. They also demonstrated the room-temperature magnetocapacitance effects of these GFO thin films.

Multiferroic materials show magnetically driven ferroelectricity. They are attracting increasing attention because of their fascinating properties such as...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

10th International Symposium: “Advanced Battery Power – Kraftwerk Batterie” Münster, 10-11 April 2018

08.01.2018 | Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

 
Latest News

Let the good tubes roll

19.01.2018 | Materials Sciences

How cancer metastasis happens: Researchers reveal a key mechanism

19.01.2018 | Health and Medicine

Meteoritic stardust unlocks timing of supernova dust formation

19.01.2018 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>