Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

UCSD researchers link novel mutated gene to meal retardation and imbalance

09.05.2006
The research team, directed by Joseph Gleeson, M.D., Director of the Neurogenetics Laboratory at the UCSD School of Medicine and associate professor in the Department of Neurosciences, have identified a new gene that, when mutated, leads to JSRD. Their findings will be published on-line May 7 in advance of publication in the journal Nature Genetics.

JSRD is a group of neurodevelopmental syndromes marked by absence of the middle part of the cerebellum called the vermis, along with features including poor balance, jerky eye movements, mental retardation and autism. The most consistent feature seen in children affected with JSRD is a striking finding on brain MRI called the "molar-tooth sign," in which the base of the brain takes on the appearance of a tooth. A subset of JSRD patients also displays disease in other body organs including the retina, kidneys and liver.

The discovery of the new gene linked to JSRD was found in collaboration with scientists at the Mendel Institute in Rome, under the direction of Enza Maria Valente. The researchers studied a large family from Sardinia, Italy, with several members exhibiting the disease. Within the family, in which the parents were second cousins, the scientists discovered a new genetic interval and the presence of the CEP290 (Centrosome-associated protein 290) gene. The research teams identified inactivating mutations in CEP290 in this family and mutations were also identified in families with similar diseases in Turkey, the Palestinian region of Israel and Pakistan. This gene has not previously been implicated in human disease, and encodes a novel protein, previously identified as a centrosomal-associated protein, but with unknown function.

Once the mutations were identified, the group set out to understand the role of the protein in development of the human cerebellum. They found that the gene was produced predominantly in the population of neurons in the brain called cerebellar granule neurons. They also discovered specific protein targets suggesting that the gene may control cell division in the cerebellum during the human development, which would account for the cerebellar defect seen in these patients.

"The results are interesting, because they connect JSRD with other diseases in which retina, kidney and liver are diseased," said Gleeson. These diseases, including recessive kidney cyst disease, Senior-Loken, Bardet-Biedl and Meckel syndromes, are caused by genes that encode proteins localized to ciliated structures or the centrosome. "The data suggests that JSRD may fall into these groups of conditions, although the exact mechanism of how the CEP290 protein regulates cerebellar development remains unknown."

In 2004, Gleeson and his colleagues – along with scientists at Harvard University – discovered mutations in the AH1 gene found on chromosome 6 DNA. The gene is responsible for the most common of three known forms of Joubert Syndrome and was the first genetic defect clearly associated with the disorder.

Additional contributors to the current study include Jennifer Silhavy, Suguna Krishnaswami, Madeline Lancaster and Carrie Louie from the Gleeson lab; Francesco Brancati, Giuseppe Barrano, Maro Castori, Emanuele Bellacchio and Bruno Dallapiccola from the Valente Lab; Eugen Bolshauser, Children’s University Hospital in Zurich, Switzerland; Loredana Boccone, Ospedale Microcitemico, Cagliari, Italy; Lihadh Al-Gazali, United Emirates University; Elisa Fazzi, University of Pavia, Italy; Enrico Bertini, Bambino Gesu Hospital in Rome and the International JSRD Study Group.

Debra Kain | EurekAlert!
Further information:
http://www.ucsd.edu

More articles from Life Sciences:

nachricht What happens in the cell nucleus after fertilization
06.12.2016 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt

nachricht Researchers uncover protein-based “cancer signature”
05.12.2016 | Universität Basel

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Significantly more productivity in USP lasers

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:...

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

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...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

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...

Im Focus: Quantum Particles Form Droplets

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...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

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,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

Simple processing technique could cut cost of organic PV and wearable electronics

06.12.2016 | Materials Sciences

3-D printed kidney phantoms aid nuclear medicine dosing calibration

06.12.2016 | Medical Engineering

Robot on demand: Mobile machining of aircraft components with high precision

06.12.2016 | Power and Electrical Engineering

VideoLinks
B2B-VideoLinks
More VideoLinks >>>