Navigation Links
Texas A&M spring graduate contributes to mental retardation research published in Nature

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
Texas A&M University

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:
(Date:4/15/2016)... CHICAGO , April 15, 2016  A ... companies make more accurate underwriting decisions in a ... offering timely, competitively priced and high-value life insurance ... health screenings. With Force Diagnostics, rapid ... and lifestyle data readings (blood pressure, weight, pulse, ...
(Date:4/14/2016)... , April 14, 2016 ... Malware Detection, today announced the appointment of Eyal ... new role. Goldwerger,s leadership appointment comes at ... heels of the deployment of its platform at several ... biometric technology, which discerns unique cognitive and physiological factors, ...
(Date:3/31/2016)... 31, 2016   ... the "Company") LegacyXChange is excited to release ... soon to be launched online site for trading 100% ... ) will also provide potential shareholders a sense of ... to an industry that is notorious for fraud. The ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... (PRWEB) , ... June 23, 2016 , ... ... is pleased to announce the launch of their brand, UP4™ Probiotics, into Target ... over 35 years, is proud to add Target to its list of well-respected ...
(Date:6/23/2016)... 23, 2016 Houston Methodist Willowbrook Hospital ... Sports Association to serve as their official health ... Methodist Willowbrook will provide sponsorship support, athletic training ... association coaches, volunteers, athletes and families. ... Sports Association and to bring Houston Methodist quality ...
(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)... LOUISVILLE, Ky. , June 23, 2016 /PRNewswire/ ... from two Phase 1 clinical trials of its ... double-blind, placebo-controlled, single and multiple ascending dose studies ... and pharmacodynamics (PD) of subcutaneous injection in healthy ... APL-2 subcutaneously (SC) either as a single dose ...
Breaking Biology Technology: