Navigation Links
Texas A&M spring graduate contributes to mental retardation research published in Nature
Date:8/3/2010

COLLEGE STATION, Aug 3, 2010 Malfunction of a protein has been linked to a form of mental retardation that affects up to one out of every 500 males, says Nasser K. Yaghi, a Texas A&M University magna cum laude biology graduate who was selected to participate in a medical research project at Harvard that has been published in the journal Nature.

The results of the study suggest that if the condition is detected early in fetal development a treatment could possibly be developed to correct the problem.

"X-linked mental retardation (XLMR) is a human genetic disease affecting up to 2 out of 1,000 males and causes significant reduction in intellectual development characterized by an IQ less than 70," Yaghi says. "Many of these patients also have deficits in craniofacial (head and face) development such as cleft lip and cleft palate."

The double helix of DNA spools around proteins called histones, whose activities regulate gene expression, and PHF8, an enzyme in the family of histone demethylases, regulates some of these histones, he explains.

"Mutations in PHF8 have been found in patients with XLMR and craniofacial malformations," Yaghi adds. "Importantly, these mutations compromised PHF8's catalytic function."

Biological function of PHF8 was tested in zebrafish, which have an evolutionarily conserved PHF8 called zPHF8. Expression of zPHF8 was found in the developing zebrafish embryo mostly in the head region and was also able to be detected in the jaw, Yaghi notes.

When zPHF8's expression was inhibited, delay in brain development and the neural tube was observed. In addition, "when zPHF8 is not present in the developing zebrafish embryo, there are very noticeable differences in craniofacial development early in development when compared to normal embryos," he adds.

"Although this study was largely basic science research, I can hypothesize that when XLMR can be detected early in fetal development through genetic screening, then possibly a treatment could be created that would target the mutated PHF8 gene or introduce a new way to allow for proper histone demethylation in the absence of nonfunctional PHF8, and this would possibly correct the defect and allow proper development to continue," he explains.


'/>"/>

Contact: Lane Stephenson
l-stephenson@tamu.edu
979-845-4662
Texas A&M University
Source:Eurekalert

Related biology news :

1. Chances of hurricane hitting Texas discussed at UH conference
2. Texas A&M veterinary researchers achieve cloning first
3. Texas Childrens Hospital vaccine experts present 4 studies
4. New bony-skulled dinosaur species discovered in Texas
5. Texas Childrens Cancer Center first in Texas to magnetically lengthen nine-year-olds leg as she grows
6. UT Southwesterns BioCenter driving biotech, medical innovation in North Texas
7. Biogas technology with potential to save thousands of lives to be featured at Texas event
8. Quickly and easily integrate fingerprint biometric features into portable applications with Texas Instruments comprehensive, low cost fingerprint development kit
9. Texas Childrens discharges history-making patient
10. University of Texas Southwestern Medical Center researcher wins Avanti Award in lipids
11. Texas AgriLife researchers helping
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/2/2016)... The Department of Transport Management (DOTM) of ... project, for the , Supply and Delivery of ... Infrastructure , to Decatur , ... Management Solutions. Numerous renowned international vendors participated in the tendering ... selected for the most compliant and innovative solution. The contract ...
(Date:5/24/2016)... , May 24, 2016 Ampronix facilitates superior patient care by providing unparalleled ... medical LCD display is the latest premium product recently added to the range of ... ... ... Sony 3d Imaging- LCD Medical Display- Ampronix News ...
(Date:5/9/2016)... May 9, 2016 Elevay is ... to expanding freedom for high net worth professionals seeking ... today,s globally connected world, there is still no substitute ... ever duplicate sealing your deal with a firm handshake. ... by taking advantage of citizenship via investment programs like ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... --  EpiBiome , a precision microbiome engineering company, today ... from Silicon Valley Bank (SVB). The financing will allow ... drug development efforts, as well as purchase additional lab ... been an incredible strategic partner to us – one ... provide," said Dr. Aeron Tynes Hammack , EpiBiome,s ...
(Date:6/23/2016)... ... ... STACS DNA Inc., the sample tracking software company, today announced that Dr. Hays ... DNA as a Field Application Specialist. , “I am thrilled that Dr. Young ... DNA. “In further expanding our capacity as a scientific integrator, Hays brings a wealth ...
(Date:6/23/2016)... Apellis Pharmaceuticals, Inc. today announced positive ... its complement C3 inhibitor, APL-2. The trials were ... studies designed to assess the safety, tolerability, pharmacokinetics ... healthy adult volunteers. Forty subjects were ... dose (ranging from 45 to 1,440mg) or repeated ...
(Date:6/23/2016)... 2016 Andrew D ... http://doi.org/10.17925/OHR.2016.12.01.22 Published recently in ... from touchONCOLOGY, Andrew D Zelenetz , discusses ... care is placing an increasing burden on healthcare ... therapies. With the patents on many biologics expiring, ...
Breaking Biology Technology: