Navigation Links
Researchers find gene linked to birth defects

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

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

Their 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 and polycystic kidney disease. The paper is published in Nature Genetics today.

"By understanding the science behind this relatively rare condition, we can gain insight into other developmental conditions that are less serious but far more frequent," said University of Leeds researcher Professor Colin A. Johnson. "Spina bifida, for example, is one of the most common birth defects, affecting in one in every 1000 children."

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 the neural tube from developing correctly in growing embryos, leading to abnormalities in the brain. Affected embryos can also develop abnormalities in the eyes, extra fingers or toes, and multiple cysts in their kidneys. These defects are often only picked up on a 12 week ultrasound scan.

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 have very visible embryos.

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 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 Johnson.

"Now that we have identified a gene that causes Meckel-Gruber syndrome and Joubert syndrome, the role of particular signalling pathways whilst the embryo is developing can also be more clearly understood," he added.


Contact: Paula Gould
University of Leeds

Related biology news :

1. Yale researchers develop test to identify best sperm
2. UT Southwestern researchers use novel sperm stem-cell technique to produce genetically modified rats
3. UCI researchers create retina from human embryonic stem cells
4. Discovery may lead to safer drinking water, cheaper medicine: Queens University researchers
5. Researchers discover new mechanism for clearing blockages from smallest blood vessels
6. Researchers calculate the greenhouse gas value of ecosystems
7. Queens researchers reveal parasitic threat to animals and the environment
8. MSU researchers testing vaccine to help people quit smoking
9. OU WaTER Center researchers providing solutions in developing countries
10. Researchers embark on work to control the prion epidemic affecting deer in the USA
11. Are invasives bad? Not always, say Brown researchers
Post Your Comments:
(Date:6/2/2016)... 2, 2016 The Department of Transport ... the 44 million US Dollar project, for the , ... including Personalization, Enrolment, and IT Infrastructure , to ... production and implementation of Identity Management Solutions. Numerous renowned international ... Decatur was selected for the most compliant ...
(Date:6/2/2016)... 2, 2016 Perimeter Surveillance & ... Systems, Physical Infrastructure, Support & Other Service  ... offers comprehensive analysis of the global Border ... generate revenues of $17.98 billion in 2016. ... a leader in software and hardware technologies for advanced ...
(Date:5/24/2016)... Ampronix facilitates superior patient care by providing unparalleled technology to leaders of ... the latest premium product recently added to the range of products distributed by Ampronix. ... ... ... Medical Display- Ampronix News ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... WI (PRWEB) , ... June 23, 2016 , ... ... focused on quality, regulatory and technical consulting, provides a free webinar ... presented on July 13, 2016 at 12pm CT at no charge. , Incomplete ...
(Date:6/23/2016)...  Amgen (NASDAQ: AMGN ) today announced ... life sciences incubator to accelerate the development of new ... at QB3@953 was created to help high-potential life science ... early stage organizations - access to laboratory infrastructure. ... two "Amgen Golden Ticket" awards, providing each winner with ...
(Date:6/22/2016)... DIEGO , June 22, 2016 ... that will allow them to produce up to ... from one lot within one week. These high-quality, ... time laboriously preparing cells and spend more time ... possible through a proprietary, high-volume manufacturing process that ...
(Date:6/22/2016)... NEW YORK , June 22, 2016 /PRNewswire/ ... the growing next generation sequencing (NGS) market include ... adoption of smaller sequencers.  More accessible and affordable ... led to growing demand for consumables including sample ... The Market for Sample Preparation for Next ...
Breaking Biology Technology: