Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene for Joubert syndrom with excessive brain folds discovered by UCSD researchers and Harvard team

21.10.2004



Researchers at the University of California, San Diego (UCSD) School of Medicine have discovered the gene for a form of Joubert Syndrome, a condition present before birth that affects an area of the brain controlling balance and coordination in about 1 in 10,000 individuals. Their study, published in the November 2004 issue of the American Journal of Human Genetics*, pointed to mutations in a gene called AHI1 that lead to the production of a protein the scientists named Jouberin.

Separate research by a team from Harvard Medical School concurrently identified the same gene in a paper published in the November 2004 issue of the journal Nature Genetics.** Both the UCSD and Harvard studies were published online prior to the print publications in November.

The AHI1 gene mutation is responsible for a form of Joubert Syndrome manifested by absence of part of the cerebellum, the part of the brain controlling balance, and by excessive folding in the cerebral cortex, the part of the brain controlling consciousness and thought. The results from both UCSD and Harvard involved a gene-by-gene search of chromosome 6 DNA from three families studied by UCSD and three separate families studied by Harvard. Researchers believe the disorder linked to chromosome 6 is the most common of the three known forms of Joubert Syndrome.



“This is a tremendously exciting finding because it is the first genetic defect clearly associated with this condition. Although Joubert Syndrome is relatively rare, we think that the genes causing this condition are going to underlie more common childhood brain and behavioral abnormalities, such as autism, mental retardation, and poor coordination” said the UCSD paper’s senior author, Joseph Gleeson, M.D., assistant professor of neurosciences at UCSD and Children’s Hospital San Diego.

This identification caps a five-year hunt for the first gene for Joubert syndrome. The Gleeson team initially recruited families in the U.S., but after initial attempts, shifted focus to families in the Middle East, where inbreeding (i.e. first-cousin marriages) are common and families commonly have 8-12 children. “These populations allowed us to better exploit the work of the human genome project to arrive at the chromosomal hot-spot,” he said.

Noting that many children with Joubert Syndrome also have autism, Gleeson explained that “if we can understand how the AHI1 gene works and how its dysfunction leads to disordered brain development, it can tell us something about the biology underlying a common disorder like autism.”

Also important are the implications for genetic testing, Gleeson added. “We receive frequent calls from parents who already have a child with Joubert Syndrome, and who want more children but are naturally concerned about having other children with major handicaps,” Gleeson said. “We also hear from obstetricians asking about genetic testing when they find a child on routine prenatal ultrasound whose brain is underdeveloped.”

Prior to this finding, there was very little that could be offered in terms of genetic evaluation, but the current findings are a step in the right direction, Gleeson said, adding that “although there will ultimately be several more genes identified that can lead to the various forms of Joubert Syndrome, our discovery will help those individuals with the form that includes excessive cerebral cortex brain folding. Beyond that, we are very interested in studying this new gene in a whole host of childhood brain disorders”

In addition to Gleeson, authors of the paper were first author Tracy Dixon-Salazar, B.S., Jennifer L. Silhavy, M.S., Sara E. Marsh, M.S., Carrie M. Louie, B.S., Lesley C. Scott, M.S., UCSD Department of Neurosciences; Aithala Gururaj, M.D., Lihadh Al-Gazali, M.D. and Laslo Sztriha, M.D., Ph.D., Department of Pediatrics, United Arab Emirates University; Asma A. Al-Tawari, M.D., Neurology Department, Al Sabah Hospital, Kuwait; and Hulya Kayerili M.D., Prenatal Diagnosis Research Center, University of Istanbul.

The study was funded by the Joubert Syndrome Foundation and by grants from the March of Times and the National Institute of Neurological Disorders and Stroke.

Sue Pondrom | EurekAlert!
Further information:
http://www.ucsd.edu

More articles from Life Sciences:

nachricht Primates in peril
15.06.2018 | Deutsches Primatenzentrum GmbH - Leibniz-Institut für Primatenforschung

nachricht Flying spider - Thekla's Wondrous Journey
15.06.2018 | Technische Universität Berlin

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: AchemAsia 2019 will take place in Shanghai

Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.

Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...

Im Focus: First real-time test of Li-Fi utilization for the industrial Internet of Things

The BMBF-funded OWICELLS project was successfully completed with a final presentation at the BMW plant in Munich. The presentation demonstrated a Li-Fi communication with a mobile robot, while the robot carried out usual production processes (welding, moving and testing parts) in a 5x5m² production cell. The robust, optical wireless transmission is based on spatial diversity; in other words, data is sent and received simultaneously by several LEDs and several photodiodes. The system can transmit data at more than 100 Mbit/s and five milliseconds latency.

Modern production technologies in the automobile industry must become more flexible in order to fulfil individual customer requirements.

Im Focus: Sharp images with flexible fibers

An international team of scientists has discovered a new way to transfer image information through multimodal fibers with almost no distortion - even if the fiber is bent. The results of the study, to which scientist from the Leibniz-Institute of Photonic Technology Jena (Leibniz IPHT) contributed, were published on 6thJune in the highly-cited journal Physical Review Letters.

Endoscopes allow doctors to see into a patient’s body like through a keyhole. Typically, the images are transmitted via a bundle of several hundreds of optical...

Im Focus: Photoexcited graphene puzzle solved

A boost for graphene-based light detectors

Light detection and control lies at the heart of many modern device applications, such as smartphone cameras. Using graphene as a light-sensitive material for...

Im Focus: Water is not the same as water

Water molecules exist in two different forms with almost identical physical properties. For the first time, researchers have succeeded in separating the two forms to show that they can exhibit different chemical reactivities. These results were reported by researchers from the University of Basel and their colleagues in Hamburg in the scientific journal Nature Communications.

From a chemical perspective, water is a molecule in which a single oxygen atom is linked to two hydrogen atoms. It is less well known that water exists in two...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Munich conference on asteroid detection, tracking and defense

13.06.2018 | Event News

2nd International Baltic Earth Conference in Denmark: “The Baltic Sea region in Transition”

08.06.2018 | Event News

ISEKI_Food 2018: Conference with Holistic View of Food Production

05.06.2018 | Event News

 
Latest News

A sprinkle of platinum nanoparticles onto graphene makes brain probes more sensitive

15.06.2018 | Materials Sciences

100 % Organic Farming in Bhutan – a Realistic Target?

15.06.2018 | Ecology, The Environment and Conservation

Perovskite-silicon solar cell research collaboration hits 25.2% efficiency

15.06.2018 | Power and Electrical Engineering

VideoLinks
Science & Research
Overview of more VideoLinks >>>