Navigation Links
Measuring intellectual disability

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
American Journal of Pathology

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:
(Date:11/4/2015)... November 4, 2015 --> ... report published by Transparency Market Research "Home Security Solutions Market ... Forecast 2015 - 2022", the global home security solutions market is ... by 2022. The market is estimated to expand at ... 2015 to 2022. Rising security needs among customers at ...
(Date:10/29/2015)... , Oct. 29, 2015   MedNet Solutions , ... entire spectrum of clinical research, is pleased to announce ... Tech Association (MHTA) as one of only three finalists ... "Software – Small and Growing" category. The Tekne Awards honor ... have shown superior technology innovation and leadership. ...
(Date:10/29/2015)... 2015 Daon, a global leader in mobile ... a new version of its IdentityX Platform , ... America have already installed IdentityX v4.0 and ... FIDO UAF certified server component as an ... FIDO features. These customers include some of the largest ...
Breaking Biology News(10 mins):
(Date:11/30/2015)... ... 2015 , ... Global Stem Cells Group announced the opening of a new core ... and Iquique in northern Chile. The facilities are part of GSCG’s expansion efforts in Latin ... techniques in stem cell medicine to patients from around the world. , The clinics will ...
(Date:11/30/2015)... , December 1, 2015 Partnership includes an ... for the u niversity , ... support treatment s cale - up ... (ARVs)   Africa , where licensees based anywhere in the ... on SDN technology. --> Africa , where licensees based anywhere ...
(Date:11/30/2015)... /PRNewswire/ - Zenith Epigenetics Corp. ("Zenith" or the "Company") today ... to its Board of Directors to replace Dr. ... wealth of experience as co-founder of Resverlogix, with expertise in ... --> --> Dr. Wong remarked, "I am ... Zenith,s long standing expertise in epigenetics and the advanced stage ...
(Date:11/30/2015)...  Champions Oncology, Inc. (CSBR), engaged in the development ... development and use of oncology drugs, today announced that ... presenting at the LD MICRO Investor Conference on Wednesday, ... The conference, held at the Luxe Sunset Bel Air ... will feature 200 small/micro-cap companies and is expected to ...
Breaking Biology Technology: