Navigation Links
Severe mental retardation gene mutation identified

Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis, according to an article to be published electronically on Tuesday, March 20, 2007 in The American Journal of Human Genetics.

Investigators F. Lucy Raymond (Cambridge Institute of Medical Research, University of Cambridge, Cambridge, UK) and Patrick S. Tarpey (Wellcome Trust Sanger Institute, Hixton, UK) describe the ZDHHC9 gene found in those with severe retardation as being mutated to the point of entirely losing function.

"ZDHHC9 is a novel gene," explains Dr. Raymond. "This gene would not have been predicted to play a role in mental retardation based on the previous genetics work. It was found only because we were systematically looking at all the genes on the X chromosome irrespective of what they do."

X-linked mental retardation is severe. Some patients require total care and may not have language ability. The condition runs in families and only affects the male offspring. So far only a few of these genes have been identified.

Working through a large, international collaboration, the researchers collected genetic samples from 250 families in which at least two boys have mental retardation to help identify novel genes that cause X-linked mental retardation. The investigators systematically analyzed the X chromosome for gene mutations.

Dr. Raymond says that the families are receiving information from the study and using it to make decisions in their lives. "We cannot currently make their children better, but knowing that we found a genetic abnormality gives them an explanation for what has happened," she explains. "We had one family that said this knowledge was the best news they had ever been given."

"We have identified the cause of problems in certain families and are able to tell whether or not women are carriers of the condition," Dr. Raymond c
'"/>

Source:University of Chicago Press Journals


Page: 1 2

Related biology news :

1. Rush Physicians Using Gene Therapy For Heart Patients With Moderate To Severe Chest Pains Who Do Not Benefit From Other Treatments
2. Fundamental Finding Yields Insight into Stem Cells, Cancer; Opens Door to Drug Discovery
3. NIAID Initiates Trial of Experimental Avian Flu Vaccine
4. Study reveals new technique for fingerprinting environmental samples
5. Compounds in plastic packaging act as environmental estrogens altering breast genes
6. Protein prevents detrimental immune effects of bacterial sepsis
7. Gene keeps neural cells on correct developmental path
8. UN environmental agency steps up battle against marine pollution
9. Agilent Technologies introduces advanced zebrafish, mouse microarrays for stem cell and developmental biology research
10. Grass makes environmentally friendly biofuel
11. Stem cells grown in lab mirror normal developmental steps
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Severe mental retardation gene mutation identified

(Date:7/11/2014)... Researchers from Salk Institute for Biological Studies, BGI, ... the safety and reliability of the existing targeted ... method, TALEN-HDAdV, which could significantly increased gene-correction efficiency ... study published online in Cell Stell Cell ... cell-based gene therapy. , The combination of stem ...
(Date:7/11/2014)... The increased risk of kidney injury related to the ... the mass of HES molecules, according to a report ... the International Anesthesia Research Society (IARS). , The "total ... HES on cultured human renal proximal tubule cells (PTCs), ... colleagues of University Hospital Wrzburg, Austria. Other factorssuch ...
(Date:7/11/2014)... July 11, 2014 Research and Markets ... Biometrics Technology Market - Industry Analysis Size Share Growth ... offering. http://photos.prnewswire.com/prnh/20130307/600769 ... has created a need for high level security in ... personnel authentication such as username and passwords, tokens etc. ...
Breaking Biology News(10 mins):A new genome editing method brings the possibility of gene therapies closer to reality 2In lab studies, hydroxyethyl starch has direct harmful effects on kidney cells 2International Biometrics Technology Market - Industry Analysis Size Share Growth Trends and Forecast to 2019 2
... during pregnancy may raise the risk of asthma in offspring, ... Medical School in Boston. The researchers investigated differences in immune ... in high stress environments and those born to mothers with ... be associated with asthma risk later in life. "This ...
... monster movies, but palaeontologists have discovered evidence of how an ... place 4 million years ago. Such fossil evidence ... of bite marks on an otherwise well-preserved dolphin skeleton, the ... that led to the death of the dolphin, and determined ...
... 17, 2010) More than 1600 basic research scientists ... flies) are expected to attend the 51st Annual ... 2010. Representatives of the media are ... poster and workshop sessions. Eligible media will receive complimentary ...
Cached Biology News:Stress during pregnancy may increase offspring's risk of asthma 2Jaws -- 4 million B.C. 2Genetics Society of America's 51st Annual Drosophila Research Conference 2Genetics Society of America's 51st Annual Drosophila Research Conference 3Genetics Society of America's 51st Annual Drosophila Research Conference 4
(Date:7/10/2014)... 2014 On July 9 Prime ... presented Russia,s first national "Industry" ... Company is developing a unique project called MabNext ... a number of innovative drugs based on monoclonal antibodies ... took place at the International Exhibition "Innoprom 2014" in ...
(Date:7/10/2014)... , July 10, 2014 Research ... addition of the "International Photonic Integrated Circuit ... Forecasts to 2019" report to their offering. ... The concept of photonic integration traces its ... century. The promise of photonic integration went unexplored ...
(Date:7/10/2014)... fight against terrorism with the creation of a sensor ... use of light and special glass fibres. , Published ... , the researchers describe a novel optical fibre sensor ... 6.3 ppm (parts per million). It requires an analysis ... detection has involved looking for metals that encase them ...
(Date:7/10/2014)... has been extremely challenging because there are many genetic ... cause disease. Now investigators reporting in the July 3rd ... Cell describe a strategy that may help reveal ... factors or environmental exposures to affect the development of ... that may predispose individuals to schizophrenia. , The ...
Breaking Biology Technology:Dmitry Medvedev Presented BIOCAD the First National "Industry" Award 2International Photonic Integrated Circuit (Monolithic Integration, Hybrid Integration, Module Integration) Market - Forecasts to 2019 2Detecting trace amounts of explosives with light 2New strategy could uncover genes at the root of psychiatric illnesses 2
... Recently the Wisconsin Technology Network sat down with ... Council , to discuss the basic tenants and initiatives ... technology space grow. This is the first portion of ... and how the Wisconsin Technology Council is working to ...
... is high-stakes, high-payoff business for many stakeholders looking ... also an industry that faces scrutiny from the ... the BIO 2004 Conference was among ... networking opportunities, all designed to showcase the quality ...
... of a whole new round of Wisconsin economic growth. ... the Milwaukee Journal Sentinel published, entitled Barrons Article Knocks the ... a hedge-fund manager named Jeff Gendell in an interview from ... Gendell stated that he expected the strongest U.S. recovery in ...
Cached Biology Technology:WTN exclusive interview with Tom Still, Wisconsin Technology Council 2WTN exclusive interview with Tom Still, Wisconsin Technology Council 3WTN exclusive interview with Tom Still, Wisconsin Technology Council 4WTN exclusive interview with Tom Still, Wisconsin Technology Council 5On location: BIO 2004 2On location: BIO 2004 3On location: BIO 2004 4Hey Willie, Wisconsin Manufacturing Doesnt Need an Aid Concert! 2Hey Willie, Wisconsin Manufacturing Doesnt Need an Aid Concert! 3
... The VSOS-4 Orbital Shaker is designed to ... provide a uniform motion that is both mixing ... VSOS-4 Orbital Shaker provides a smooth, quiet, reproducible ... a wide range of laboratory applications such as ...
... Titer Kit is designed for determination of baculovirus ... days as in other methods. Classical determination of ... plaques, but the FastPlax Kit takes advantage of ... glycoprotein on the cell surface as early as ...
... state-of-the-art software for all your biopharmaceutical applications ... a single, scalable software package. The graphical ... the control of all Freedom instruments from ... 100 with one liquid handling arm up ...
... Kit is an advanced system for isolating DNA from ... be used directly for any downstream application. ... to use in 56 minutes Low melting point ... and TBE gels No specialised equipment required ...
Biology Products: