Featured Research

from universities, journals, and other organizations

Malfunction of a protein has been linked to form of mental retardation that affects one in 500 males

Date:
August 5, 2010
Source:
Texas A&M University
Summary:
Malfunction of a protein has been linked to a form of mental retardation that affects up to one out of every 500 males, according to new research.

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.


Story Source:

The above story is based on materials provided by Texas A&M University. Note: Materials may be edited for content and length.


Journal Reference:

  1. Qi et al. Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development. Nature, 2010; 466 (7305): 503 DOI: 10.1038/nature09261

Cite This Page:

Texas A&M University. "Malfunction of a protein has been linked to form of mental retardation that affects one in 500 males." ScienceDaily. ScienceDaily, 5 August 2010. <www.sciencedaily.com/releases/2010/08/100803152815.htm>.
Texas A&M University. (2010, August 5). Malfunction of a protein has been linked to form of mental retardation that affects one in 500 males. ScienceDaily. Retrieved April 16, 2014 from www.sciencedaily.com/releases/2010/08/100803152815.htm
Texas A&M University. "Malfunction of a protein has been linked to form of mental retardation that affects one in 500 males." ScienceDaily. www.sciencedaily.com/releases/2010/08/100803152815.htm (accessed April 16, 2014).

Share This



More Health & Medicine News

Wednesday, April 16, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola Outbreak Now Linked To 121 Deaths

Ebola Outbreak Now Linked To 121 Deaths

Newsy (Apr. 15, 2014) The ebola virus outbreak in West Africa is now linked to 121 deaths. Health officials fear the virus will continue to spread in urban areas. Video provided by Newsy
Powered by NewsLook.com
Cognitive Function: Is It All Downhill From Age 24?

Cognitive Function: Is It All Downhill From Age 24?

Newsy (Apr. 15, 2014) A new study out of Canada says cognitive motor performance begins deteriorating around age 24. Video provided by Newsy
Powered by NewsLook.com
How Mt. Everest Helped Scientists Research Diabetes

How Mt. Everest Helped Scientists Research Diabetes

Newsy (Apr. 15, 2014) British researchers were able to use Mount Everest's low altitudes to study insulin resistance. They hope to find ways to treat diabetes. Video provided by Newsy
Powered by NewsLook.com
Carpenter's Injury Leads To Hundreds Of 3-D-Printed Hands

Carpenter's Injury Leads To Hundreds Of 3-D-Printed Hands

Newsy (Apr. 14, 2014) Richard van As lost all fingers on his right hand in a woodworking accident. Now, he's used the incident to create a prosthetic to help hundreds. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins