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 A Map of the Cell’s Power Station
18.08.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau

nachricht On the way to developing a new active ingredient against chronic infections
21.08.2017 | Deutsches Zentrum für Infektionsforschung

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

Nagoya physicists resolve long-standing mystery of structure-less transition

21.08.2017 | Materials Sciences

Chronic stress induces fatal organ dysfunctions via a new neural circuit

21.08.2017 | Health and Medicine

Scientists from the MSU studied new liquid-crystalline photochrom

21.08.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>