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:3/17/2016)... 2016 ABI Research, the leader in ... biometrics market will reach more than $30 billion ... 2015. Consumer electronics, particularly smartphones, continue to boost ... to reach two billion shipments by 2021 at ... , Research Analyst at ABI Research. "Surveillance is ...
(Date:3/11/2016)... http://www.apimages.com ) - --> http://www.apimages.com ... at AP Images ( http://www.apimages.com ) - Germany ... produce the new refugee identity cards. DERMALOG will be unveiling this ... Hanover next week.   --> ... to produce the new refugee identity cards. DERMALOG will be unveiling ...
(Date:3/9/2016)... 2016 Nigeria . ... than 23,000 public service employees either did not exist ... salary unlawfully.    --> Nigeria ... more than 23,000 public service employees either did not ... their salary unlawfully.    --> DERMALOG, the ...
Breaking Biology News(10 mins):
(Date:5/24/2016)... (PRWEB) , ... May 24, 2016 , ... ... a newly re-branded identity. The new Media Cybernetics corporate branding reflects a results-driven ... of imaging and image analysis. The re-branding components include a crisp, refreshed logo ...
(Date:5/23/2016)... ... 2016 , ... PrecisionAg® Media has released its latest White ... paper outlines the key trends that are creating both opportunities and challenges for ... of highs and lows as the precision agriculture market has grown and matured ...
(Date:5/23/2016)... -- Oxitec CEO Hadyn Parry will ... ET before the United States House Committee on Science, Space ... in controlling the spread of the Aedes aegypti ...      (Logo: http://photos.prnewswire.com/prnh/20150630/227348 ) Oxitec has ... Trials in Brazil , Panama ...
(Date:5/23/2016)... North Carolina (PRWEB) , ... May 23, 2016 ... ... automation and building management solutions and services based in Aurora, Ohio, has broken ... of established business in the Research Triangle Park area, this new location solidifies ...
Breaking Biology Technology: