Comparing 500,000 snippets of human DNA put scientists from the University of Bonn on the right track. A genetic variant on chromosome 8 occurs with significantly higher frequency in people with cleft lip and palate than in the control group. The results are to be published in the forthcoming issue of the journal Nature Genetics.
Cleft lips and palates are among the most frequent innate abnormalities. One in about 700 babies in Central Europe are affected. Children in particular suffer a lot from the deformity, even if the insulting and discriminating term 'harelip' has fortunately almost died out.
In the cleft lip and palate, different tissue processes of the face and mouth area do not fuse together or do so insufficiently. This results in a gap remaining between lip, jaw and sometimes the palate. It seems likely that several factors have to add up in order for clefts to form. Both environmental influences which have an impact on the child in the womb and genetic factors contribute to the deformity. However, the results of the scientists from Bonn could also point to genes playing a far more important role in the formation of clefts than was previously thought.
The long arm of chromosome 8
The human geneticists from the University of Bonn had examined the DNA of 460 persons with clefts. More than half of them were examined more closely. The scientists analysed more than 500,000 items of information from their DNA and then compared these with the genetic snippets of a control group. A specific area in the human genome caught the scientists' attention. 'This was a point on the long arm of chromosome 8, where the cleft group conspicuously often had a variant, far more frequently than people who had no abnormality,' Dr. Elisabeth Mangold, a lecturer from the Institute of Human Genetics at the University of Bonn, explains. This is a notable clue that a gene located in this region has something to do with the occurrence of clefts.
Good news for mothers of children affected
'Without this genetic factor on chromosome 8, the probability of a child in our population of getting clefts would be significantly less than 1 in 700,' Elisabeth Mangold points out. 'In effect, this is good news for all mothers of the children affected, who always thought, "I must have done something wrong while I was pregnant." You just can't help having the genes you have got.'
Further research now aims to show which gene exactly on chromosome 8 is responsible and how it works. 'We are currently looking for it,' Dr. Mangold explains. 'It could indeed be what is known as a regulatory element that controls other genes.' When the mechanisms of all the genes involved and the interplay with environmental factors are understood, the scientists can also say whether prophylaxis involving medication during pregnancy makes sense. There are currently several indications that taking particular vitamins during pregnancy can counteract deformities in embryos.
Dr. Elisabeth Mangold | EurekAlert!
What happens in the cell nucleus after fertilization
06.12.2016 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt
Researchers uncover protein-based “cancer signature”
05.12.2016 | Universität Basel
In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.
Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...
Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
06.12.2016 | Materials Sciences
06.12.2016 | Medical Engineering
06.12.2016 | Power and Electrical Engineering