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 Water forms 'spine of hydration' around DNA, group finds
26.05.2017 | Cornell University

nachricht How herpesviruses win the footrace against the immune system
26.05.2017 | Helmholtz-Zentrum für Infektionsforschung

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Can the immune system be boosted against Staphylococcus aureus by delivery of messenger RNA?

Staphylococcus aureus is a feared pathogen (MRSA, multi-resistant S. aureus) due to frequent resistances against many antibiotics, especially in hospital infections. Researchers at the Paul-Ehrlich-Institut have identified immunological processes that prevent a successful immune response directed against the pathogenic agent. The delivery of bacterial proteins with RNA adjuvant or messenger RNA (mRNA) into immune cells allows the re-direction of the immune response towards an active defense against S. aureus. This could be of significant importance for the development of an effective vaccine. PLOS Pathogens has published these research results online on 25 May 2017.

Staphylococcus aureus (S. aureus) is a bacterium that colonizes by far more than half of the skin and the mucosa of adults, usually without causing infections....

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

How herpesviruses win the footrace against the immune system

26.05.2017 | Life Sciences

Water forms 'spine of hydration' around DNA, group finds

26.05.2017 | Life Sciences

First Juno science results supported by University of Leicester's Jupiter 'forecast'

26.05.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>