Navigation Links
Measuring intellectual disability
Date:6/23/2009

Davis, CA Researchers from the University of California, Davis have developed a specific and quantitative means of measuring levels of the fragile X mental retardation 1 (FMR1) protein (FMRP), which is mutated in fragile X syndrome. The related report by Iwahashi et al, "A quantitative ELISA assay for the fragile X mental retardation 1 protein," appears in the July 2009 issue of the Journal of Molecular Diagnostics.

Fragile X syndrome is the most common form of inherited intellectual impairment. Nearly one third of patients diagnosed with fragile X syndrome also have some degree of autism, and the mutation underlying fragile X syndrome is the most commonly known single gene cause of autism.

Fragile X syndrome is caused by low levels of the FMRP protein, which is thought to play a role in communication between nerve cells. In patients with fragile X syndrome, a sequence in the FMR1 gene that is repeated 10-40 times in normal individuals may be repeated from 200 to more than 1,000 times, decreasing levels of the FMRP protein.

Current tests for fragile X syndrome determine the presence of the mutation by measuring the number of repeats at the DNA and mRNA level; however, the lack of a quantifiable test to determine FMRP protein levels has prevented direct correlation between FMRP protein levels and clinical severity of disease. Therefore, a group led by Dr. Paul Hagerman at the University of California, Davis developed a sensitive and highly specific test for FMRP protein. The method used is able to detect protein throughout the biologically-relevant range of protein concentrations and is readily adaptable for large-scale use.

Iwahashi et al suggest that "[this] method should prove to be a powerful tool for further investigation of the relationships between FMRP and the diverse clinical phenotypic domains [of fragile X syndrome]." "Such domains include not only autism and autism spectrum disorders, but also developmental delay, behavioral difficulties, anxiety, ADHD, and mood. Involvement among carriers of smaller (premutation) alleles can also involve developmental delays and/or autism spectrum disorders." In future studies, Dr. Hagerman and colleagues plan to explore "further large scale studies to recognize the value of the measurement and how FMRP influences the multitude of phenotypes associated with the FMR1 gene and variations seen in the normal population."


'/>"/>

Contact: Angela Colmone
acolmone@asip.org
301-634-7953
American Journal of Pathology
Source:Eurekalert

Related biology news :

1. Carbon measuring system to help mitigate climate change
2. Measuring snow with a bucket, a windmill, and the sun?
3. Measuring molecules to improve drug design
4. Measuring water from space
5. Measuring calcium in serpentine soils
6. Measuring the stress of forested areas
7. Biosensor for measuring stress in cells
8. New approach to measuring carbon in forests
9. Positron emission tomography superior to standard evaluation tools in measuring treatment response
10. Atmospheric measuring device for understanding smog formation
11. Seed Wars: Controversies and Cases on Plant Genetic Resources and Intellectual Property
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/6/2017)... 5, 2017 RAM Group , ... new breakthrough in biometric authentication based on a ... properties to perform biometric authentication. These new sensors are ... created by Ram Group and its partners. This sensor ... supply chains and security. Ram Group is a ...
(Date:4/19/2017)... York , April 19, 2017 ... as its vendor landscape is marked by the presence ... market is however held by five major players - ... Together these companies accounted for nearly 61% of the ... the leading companies in the global military biometrics market ...
(Date:4/17/2017)... , April 17, 2017 NXT-ID, Inc. ... company, announces the filing of its 2016 Annual Report on Form ... Exchange Commission. ... Form 10-K is available in the Investor Relations section of the ... on the SEC,s website at http://www.sec.gov . 2016 ...
Breaking Biology News(10 mins):
(Date:6/23/2017)... ... June 23, 2017 , ... RURO, Inc., ... version of LimitLIS®, its rapidly growing Laboratory Information System. , LimitLIS® version 3 ... installation integrity, and provide more customization options. Each of these has been “under ...
(Date:6/23/2017)... (PRWEB) , ... June 23, 2017 , ... ... for model aircraft flying hobbyists, and the University Aviation Association (UAA), the unifying ... students. The UAS4STEM Collegiate Challenge will encourage teamwork, competition, and success through a ...
(Date:6/22/2017)... ... ... Building on the success of the inaugural RAADfest last year, RAADfest 2017 ... in radical life extension. RAADfest combines cutting edge science presented for a lay audience, ... making it the largest most comprehensive and inclusive super longevity event in the world. ...
(Date:6/22/2017)... Boston, MA (PRWEB) , ... June 22, 2017 ... ... Kingdom-based social media network RegMedNet has produced a Spotlight ... has featured scholarly reviews and perspectives by leading experts on the unique regulatory ...
Breaking Biology Technology: