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:10/19/2014)... India over the last 30 years contributed only ... during that time, according to a new study ... ., "Energy access is fundamental to development: it ... education, communication, and health," says IIASA researcher Shonali ... energy access is widely agreed to be an ...
(Date:10/17/2014)... in German . ... day in order to reproduce? And why are there two ... the latest issue of the research journal Molecular Human ... Steven Ramm from Bielefeld University Bielefeld has compiled this special ... for a female to copulate with several males in quick ...
(Date:10/16/2014)... and Washington land managers have a new synthesis of ... moist mixed-conifer (MMC) forests in the two states. ... in Eastern Oregon and Washington: A Synthesis of the ... a general technical report published by the U.S. Forest ... to a request from managers for a synthesis of ...
Breaking Biology News(10 mins):Improved electricity access has little impact on climate change 2Sperm wars 2New report synthesizes best available science on management of moist mixed-conifer forests 2
(Date:10/19/2014)... OCTOBER 20-22, 2014: The 9th Annual ... take place at the Congress Center Basel, ... now available at http://www.abim.ch . ... from all over the globe will exchange ... products and developments on the world market. ...
(Date:10/19/2014)... October 19, 2014 The Asia-Pacific ... market in Asia-Pacific with analysis and forecast of ... Asia Pacific Bromine Market report, to get an ... provides a glimpse of the segmentation in the ... tables and figures. , http://www.micromarketmonitor.com/market/asia-pacific-bromine-6741503144.html ...
(Date:10/19/2014)... (PRWEB) October 19, 2014 The Asia-Pacific ... Analytics market in Asia-Pacific with analysis and forecast of ... million in 2014 to $208 million by 2019, at ... 2014 to 2019. , Browse through the TOC of ... idea of the in-depth analysis provided. It also provides ...
(Date:10/19/2014)... Asian Orthopedic braces and support systems report defines and segments ... revenue. The Orthopedic braces and support systems market in Asia ... at a developing CAGR of 4.4% from 2013 to 2018. ... and support systems market, to get an idea of the ... segmentation of orthopedic braces and support systems market in the ...
Breaking Biology Technology:The Asia-Pacific Bromine Market is estimated to grow to $4,080.1 million by 2018 - New Report by MicroMarket Monitor 2The Asia-Pacific Bromine Market is estimated to grow to $4,080.1 million by 2018 - New Report by MicroMarket Monitor 3The Asia-Pacific Speech Analytics market is estimated to reach $208 million by 2019 - New Report by MicroMarket Monitor 2The Asia-Pacific Speech Analytics market is estimated to reach $208 million by 2019 - New Report by MicroMarket Monitor 3The Asia-Pacific Speech Analytics market is estimated to reach $208 million by 2019 - New Report by MicroMarket Monitor 4The Asian Orthopedic braces and support systems market is estimated to grow to around $416.5 million by 2018 - New Report by MicroMarket Monitor 2The Asian Orthopedic braces and support systems market is estimated to grow to around $416.5 million by 2018 - New Report by MicroMarket Monitor 3The Asian Orthopedic braces and support systems market is estimated to grow to around $416.5 million by 2018 - New Report by MicroMarket Monitor 4
Cached News: