Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Research could lead to new treatments for birth defects

16.10.2006
Pioneering new research into cleft lip and palate could open the door to babies with certain craniofacial disorders being successfully treated in the womb.

University of Manchester researchers have uncovered the causes behind two genetic conditions that lead to facial anomalies including clefts, where the lip and often the roof of the mouth, or palate, fail to form properly.

Working with colleagues at the University of Iowa, Manchester husband and wife team Mike and Jill Dixon together with researcher Rebecca Richardson, have identified the role of a gene called IRF6.

"We had previously shown that a mutation in the IRF6 gene causes Van der Woude syndrome – a rare inherited form of cleft lip and palate," said Professor Mike Dixon, a dentist based in the Faculty of Life Sciences.

... more about:
»Collins »Dixon »IRF6 »Syndrome »cleft »cleft lip »craniofacial »lip »palate

"It has also been found that defects in this gene are responsible for a significant number of other cleft lip and palate disorders that are not related to any particular syndrome."

The team established that mice missing the gene developed abnormal skin as well as cleft palate. Further analysis revealed that IRF6 controls the development of keratinocytes – the main type of cells in the outer layers of the skin, known as the epidermis.

"Put simply, mutations of IRF6 in Van de Woude syndrome make the skin cells too sticky, so they stick to each other and other types of cell much sooner than they should resulting in these facial anomalies," said Professor Dixon.

The findings – published in the journal Nature Genetics this week – surprised the researchers, as all other genes in the IRF family have completely different roles, primarily in the body's immune response.

"This unexpected role for IRF6 in skin development may mean it is involved in other medically important areas of biology such as cancer and wound healing.

"In any event, this research has the potential to lead to new ways of treating cleft lip and palate caused by this genetic mutation, as targeting the defective gene during pregnancy could help the skin cells develop normally."

Further research by the Manchester team, this time with scientists at the Stowers Institute for Medical Research in Kansas, has uncovered the cellular processes involved in another genetic disorder that results in cleft palate.

Treacher Collins syndrome is characterised by underdeveloped jaw and cheek bones and ear anomalies, as well as cleft palate.

Whereas cleft lip and palate remains the most common form of congenital abnormality, affecting one in 1,000 babies in the UK, Treacher Collins syndrome is a relatively rare genetic disorder affecting one in 50,000 individuals.

"We identified the gene associated with this disorder some time ago but we have now established the reason for the anomalies," said Dr Jill Dixon.

"Working with a mouse model, we found that the craniofacial disorders are caused by the high number of cells, known as neural crest cells, that die before they have migrated to form the bone, cartilage and connective tissue in the face and head of the unborn animal.

"When translated to human development, this failure to produce enough neural crest cells in the first three to eight weeks of pregnancy results in the craniofacial anomalies observed in Treacher Collins syndrome."

Dr Paul Trainor, who headed the Kansas team, said the findings – published in the Proceedings of the National Academy of Sciences (PNAS) – were an exciting step in their investigations of genetic birth defects.

"In ongoing studies in the lab, we are testing a number of methods for chemically and genetically inhibiting the early period of cell death in an effort to stimulate the production of neural crest cells which could help to prevent the development of craniofacial anomalies."

Dr Robb Krumlauff, Scientific Director at the Stowers Institute, added: The results represent a major breakthrough in our understanding of Treacher Collins syndrome. But the door that these findings open – to the possibility of intervening in utero to prevent the disease – is truly groundbreaking."

Aeron Haworth | alfa
Further information:
http://www.manchester.ac.uk

Further reports about: Collins Dixon IRF6 Syndrome cleft cleft lip craniofacial lip palate

More articles from Life Sciences:

nachricht Discovery of a Key Regulatory Gene in Cardiac Valve Formation
24.05.2017 | Universität Basel

nachricht Carcinogenic soot particles from GDI engines
24.05.2017 | Empa - Eidgenössische Materialprüfungs- und Forschungsanstalt

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

Im Focus: Using graphene to create quantum bits

In the race to produce a quantum computer, a number of projects are seeking a way to create quantum bits -- or qubits -- that are stable, meaning they are not much affected by changes in their environment. This normally needs highly nonlinear non-dissipative elements capable of functioning at very low temperatures.

In pursuit of this goal, researchers at EPFL's Laboratory of Photonics and Quantum Measurements LPQM (STI/SB), have investigated a nonlinear graphene-based...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

Physicists discover mechanism behind granular capillary effect

24.05.2017 | Physics and Astronomy

Measured for the first time: Direction of light waves changed by quantum effect

24.05.2017 | Physics and Astronomy

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>