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:2/2/2016)... Feb. 2, 2016 This BCC Research ... market by reviewing the recent advances in high ... drive the field forward. Includes forecast through 2019. ... the challenges and opportunities that exist in the ... solution developers, as well as IT and bioinformatics ...
(Date:2/1/2016)... , February 1, 2016 ... advancements to drive global touchfree intuitive gesture control market ... --> Rising sales of consumer electronics coupled with ... control market size through 2020 ... electronics coupled with new technological advancements to drive global ...
(Date:1/25/2016)...   Unisys Corporation (NYSE: UIS ) today announced ... International Airport, New York City , to help ... to enter the United States using passports ... pilot testing of the system at Dulles last year. The ... during January 2016. --> pilot testing of the ...
Breaking Biology News(10 mins):
(Date:2/11/2016)... Feb. 11, 2016  Dovetail Genomics™ LLC today announced ... program for a planned metagenomic genome assembly service. ... metagenomic genome assembly method in a talk on Friday, ... & Technology conference in Orlando, Fla. ... complex datasets is difficult. Using its proprietary ...
(Date:2/11/2016)... MIAMI (PRWEB) , ... February 11, 2016 , ... ... in regenerative medicine, has announced a new agreement with Bankok,Thailand-based Global Stem Cells ... researchers and phsyicians in 15 Latin American countries, including Mexico, Costa Rica, Dominican ...
(Date:2/10/2016)... , Feb. 10, 2016  The Maryland House of ... has announced that University of Maryland School of Medicine ... and University of Maryland Medical System President and CEO ... "Speaker,s Medallion," the highest honor given to the public ... Dean Reece and Mr. Chrencik for ...
(Date:2/10/2016)... (NYSE MKT: ISR), a medical technology company and innovator ... treatment of prostate, brain, lung, head and neck and ... second quarter and six months of fiscal 2016, which ... --> Revenue was $1.19 million for ... 31, 2015, a 12% increase compared to $1.07 million ...
Breaking Biology Technology: