HOME >> BIOLOGY >> NEWS
Gene for Joubert syndrom with excessive brain folds discovered by UCSD researchers and Harvard team

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 famil
'"/>

Contact: Sue Pondrom
spondrom@ucsd.edu
619-543-6163
University of California - San Diego
20-Oct-2004


Page: 1 2 3

Related biology news :

1. Researchers identify fifth gene responsible for Joubert syndrome
2. Unknotting DNA clue to cancer syndrome
3. Metabolic syndrome -- dont blame the belly fat
4. Fragile X syndrome -- A stimulating environment restores neuronal function in mice
5. Studies assess effectiveness of serotonin and nerve stimulants on irritable bowel syndromes
6. U of M researchers find new, more effective treatment for toxic shock syndrome
7. Cherries may help reduce metabolic syndrome and heart disease risk factors
8. Cholesterol could be key to treating fetal alcohol syndrome
9. Rare mutation causes early heart disease and metabolic syndrome
10. Shortening chromosomes cause for earlier cancer onset in families with rare syndrome
11. Proteases cause pain in irritable bowel syndrome

Post Your Comments:
(Date:11/4/2014)... November 4, 2014   ... growth   Fuel3D , a developer of ... funding round totaling $6.4 million (£4 million). This funding builds ... earlier this year and paves the way for the commercial ... The funding round was led by Chimera Partners and ...
(Date:11/4/2014)... Lithuania , Nov. 4, 2014   ... technologies, today announced that the latest version of ... in the Ongoing MINEX evaluation organized ... of fingerprint algorithms using the INCITS 378 fingerprint ... mandatory requirement in public tenders in ...
(Date:11/3/2014)... University of Colorado Cancer Center study published ... of Sciences describes the activity of a recently ... 37 or IL-37. It has been known to limit ... the adaptive immune system: IL-37 inhibits the ability of ... , "Knowing this mechanism that underlies IL-37,s effect on ...
Breaking Biology News(10 mins):Fuel3D Secures $6.4 Million in Expansion Funding 2Fuel3D Secures $6.4 Million in Expansion Funding 3Neurotechnology Places Second in Ongoing MINEX Ranking for Fingerprint Matching Algorithms 2Neurotechnology Places Second in Ongoing MINEX Ranking for Fingerprint Matching Algorithms 3PNAS: From HIV to cancer, IL-37 regulates immune system 2
(Date:11/17/2014)... , Nov. 17, 2014 Soligenix, Inc. ... biopharmaceutical company developing products that address unmet medical ... biodefense, announced today the formation of a Medical ... to the Company as it advances the Phase ... the treatment of cutaneous T-cell lymphoma (CTCL), a ...
(Date:11/15/2014)... MA (PRWEB) November 13, 2014 Collaborative ... announced they were named one of the Boston Globe’s ... the Medium Sized Businesses in Massachusetts to receive the ... honors employers who take care of their most valuable ... awards are presented annually, and are based on an ...
(Date:11/15/2014)... The International Society for Cardiovascular ... society’s Governing Board has grown with the additions ... officer and Dr. Charles Simonton, divisional vice president, ... Mr. Rowe and Dr. Simonton are both medical ... , Dr. Nabil Dib, ISCTR President stated, “We ...
(Date:11/15/2014)... November 14, 2014 The "Operating ... Surgical, Performance), by Application (Perioperative, Preoperative, operating room ... (Web-Based, On-Premise) - Global Forecast to 2019.” defines ... an analysis and forecast of value by product, ... Along with this, the value and volumes of ...
Breaking Biology Technology:Soligenix Announces Formation of Cutaneous T-Cell Lymphoma Medical Advisory Board 2Soligenix Announces Formation of Cutaneous T-Cell Lymphoma Medical Advisory Board 3Soligenix Announces Formation of Cutaneous T-Cell Lymphoma Medical Advisory Board 4Soligenix Announces Formation of Cutaneous T-Cell Lymphoma Medical Advisory Board 5Soligenix Announces Formation of Cutaneous T-Cell Lymphoma Medical Advisory Board 6Collaborative Consulting Honored with Boston Globe Top Places to Work 2014 2International Society for Cardiovascular Translational Research Governing Board Adds Medical Industry Leaders 2Operating Room Management Market Worth $4,551.1 Million by 2019 - New Report by MarketsandMarkets 2Operating Room Management Market Worth $4,551.1 Million by 2019 - New Report by MarketsandMarkets 3Operating Room Management Market Worth $4,551.1 Million by 2019 - New Report by MarketsandMarkets 4
Cached News: