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 During HIV infection, antibody can block B cells from fighting pathogens
14.08.2018 | NIH/National Institute of Allergy and Infectious Diseases

nachricht First study on physical properties of giant cancer cells may inform new treatments
14.08.2018 | Brown University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: New interactive machine learning tool makes car designs more aerodynamic

Scientists develop first tool to use machine learning methods to compute flow around interactively designable 3D objects. Tool will be presented at this year’s prestigious SIGGRAPH conference.

When engineers or designers want to test the aerodynamic properties of the newly designed shape of a car, airplane, or other object, they would normally model...

Im Focus: Robots as 'pump attendants': TU Graz develops robot-controlled rapid charging system for e-vehicles

Researchers from TU Graz and their industry partners have unveiled a world first: the prototype of a robot-controlled, high-speed combined charging system (CCS) for electric vehicles that enables series charging of cars in various parking positions.

Global demand for electric vehicles is forecast to rise sharply: by 2025, the number of new vehicle registrations is expected to reach 25 million per year....

Im Focus: The “TRiC” to folding actin

Proteins must be folded correctly to fulfill their molecular functions in cells. Molecular assistants called chaperones help proteins exploit their inbuilt folding potential and reach the correct three-dimensional structure. Researchers at the Max Planck Institute of Biochemistry (MPIB) have demonstrated that actin, the most abundant protein in higher developed cells, does not have the inbuilt potential to fold and instead requires special assistance to fold into its active state. The chaperone TRiC uses a previously undescribed mechanism to perform actin folding. The study was recently published in the journal Cell.

Actin is the most abundant protein in highly developed cells and has diverse functions in processes like cell stabilization, cell division and muscle...

Im Focus: Lining up surprising behaviors of superconductor with one of the world's strongest magnets

Scientists have discovered that the electrical resistance of a copper-oxide compound depends on the magnetic field in a very unusual way -- a finding that could help direct the search for materials that can perfectly conduct electricity at room temperatur

What happens when really powerful magnets--capable of producing magnetic fields nearly two million times stronger than Earth's--are applied to materials that...

Im Focus: World record: Fastest 3-D tomographic images at BESSY II

The quality of materials often depends on the manufacturing process. In casting and welding, for example, the rate at which melts solidify and the resulting microstructure of the alloy is important. With metallic foams as well, it depends on exactly how the foaming process takes place. To understand these processes fully requires fast sensing capability. The fastest 3D tomographic images to date have now been achieved at the BESSY II X-ray source operated by the Helmholtz-Zentrum Berlin.

Dr. Francisco Garcia-Moreno and his team have designed a turntable that rotates ultra-stably about its axis at a constant rotational speed. This really depends...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Within reach of the Universe

08.08.2018 | Event News

A journey through the history of microscopy – new exhibition opens at the MDC

27.07.2018 | Event News

2018 Work Research Conference

25.07.2018 | Event News

 
Latest News

'Building up' stretchable electronics to be as multipurpose as your smartphone

14.08.2018 | Information Technology

During HIV infection, antibody can block B cells from fighting pathogens

14.08.2018 | Life Sciences

First study on physical properties of giant cancer cells may inform new treatments

14.08.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>