Navigation Links
Scientists identify gene linked to facial, skull and cognitive impairment
Date:7/5/2012

A gene whose mutation results in malformed faces and skulls as well as mental retardation has been found by scientists.

They looked at patients with Potocki-Shaffer syndrome, a rare disorder that can result in significant abnormalities such as a small head and chin and intellectual disability, and found the gene PHF21A was mutated, said Dr. Hyung-Goo Kim, molecular geneticist at the Medical College of Georgia at Georgia Health Sciences University.

The scientists confirmed PHF21A's role by suppressing it in zebrafish, which developed head and brain abnormalities similar to those in patients. "With less PHF21A, brain cells died, so this gene must play a big role in neuron survival," said Kim, lead and corresponding author of the study published in The American Journal of Human Genetics. They reconfirmed the role by giving the gene back to the malformed fish studied for their adeptness at regeneration which then became essentially normal. They also documented the gene's presence in the craniofacial area of normal mice.

While giving the normal gene unfortunately can't cure patients as it does zebrafish, the scientists believe the finding will eventually enable genetic screening and possibly early intervention during fetal development, including therapy to increase PHF21A levels, Kim said. It also provides a compass for learning more about face, skull and brain formation.

The scientists zeroed in on the gene by using a distinctive chromosomal break found in patients with Potocki-Shaffer syndrome as a starting point. Chromosomes packages of DNA and protein aren't supposed to break, and when they do, it can damage genes in the vicinity.

"We call this breakpoint mapping and the breakpoint is where the trouble is," said Dr. Lawrence C. Layman, study co-author and Chief of the MCG Section of Reproductive Endocrinology, Infertility and Genetics. Damaged genes may no longer function optimally; in PHF21A's case it's about half the norm.

"When you see the chromosome translocation, you don't know which gene is disrupted," Layman said. "You use the break as a focus then use a bunch of molecular techniques to zoom in on the gene." Causes of chromosomal breaks are essentially unknown but likely are environmental and/or genetic, Kim said.

Little was known about PHF21A other than its role in determining how tightly DNA is wound in a package with proteins called histones. How tightly DNA is wound determines whether proteins called transcription factors have the access needed to regulate gene expression, which is important, for example, when a gene needs to be expressed only at a specific time or tissue. PHF21A is believed to primarily work by suppressing other genes, for example, ensuring that genes that should be expressed only in brain cells don't show up in other cell types, Kim said.

Next steps include using PHF21A as a sort of geographic positioning system to identify other "depressor" genes it regulates then screening patients to look for mutations in those genes as well. "We want to find other people with different genes causing the same problem," Layman said, and they suspect the genes PHF21A interacts with or regulates are the most likely suspects. It's too early to know what percentage of Potocki-Shaffer syndrome patients have the PHF21A mutation, Kim noted. "Now that we know the causative gene, we can sequence the gene in more patients and see if they have a mutation," Layman said.

They also want to look at less-severe forms of mental deficiency, including autism, for potentially milder mutations of PHF21A. More than a dozen of the 25,000 human genes are known to cause craniofacial defects and mental retardation, which often occur together, Kim said.


'/>"/>

Contact: Greg Deriso
gderiso@georgiahealth.edu
706-721-7134
Georgia Health Sciences University
Source:Eurekalert  

Related medicine news :

1. Scientists discover new clues explaining tendon injury
2. Scientists identify new cancer stem cell mechanism
3. Finding brings scientists 1 step closer to Parkinsons drug
4. Even Some Scientists Are Math-Challenged
5. Danish scientists detect new immune alert signal
6. Scientists discover mechanism that promotes lung cancer growth and survival
7. Scientists Probe Diversity of Human Bodys Microbes
8. Proposed testosterone testing of some female olympians challenged by Stanford scientists
9. Scientists identify possible drug target for acute pancreatitis
10. Scientists Map the Tomatos Genome
11. Scientists discover gene which causes rare disease in babies
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Scientists identify gene linked to facial, skull and cognitive impairment
(Date:4/30/2016)... , ... April 30, 2016 ... ... CBC News on April 4th, 2016 questioned the use of the HyProCure ... EOTTS-HyProCure as “a controversial procedure.” EOTTS-HyProCure is a minimally invasive procedure performed, ...
(Date:4/29/2016)... ... April 29, 2016 , ... In an article published April ... enthusiasm for Botox and lip injections, which she underwent in order to feel more ... Music and Arts Festival. The article explains that Ms. Mirmelli’s situation is not unique; ...
(Date:4/29/2016)... Georgia (PRWEB) , ... April 29, 2016 , ... On ... rural hospitals across the Southeast, celebrated the signature of Gov. Nathan Deal on SB ... Rep. Geoff Duncan (R - Cumming), offers a 70% tax credit to individuals and ...
(Date:4/29/2016)... ... 29, 2016 , ... Coast Dental Fort Stewart is celebrating its grand opening ... the Exchange Furniture Mall at 112 Vilseck Road in Fort Stewart. There will be ... attendees will have the opportunity to meet general dentists Thomas Richards, DDS, and Josh ...
(Date:4/29/2016)... ... April 29, 2016 , ... World ... the Gyrociser, an exercise invention which aids in proper muscle development. , "The ... CEO and Creative Director of World Patent Marketing. "Globalization has threatened the future ...
Breaking Medicine News(10 mins):
(Date:4/29/2016)... New Jersey , April 29, 2016 /PRNewswire/ ... Software Suite for Life Sciences, Product Development Capabilities ... Global Life Science Customer Base . ... solutions provider, today announced the acquisition of Skura ... a global leader in adaptive sales enablement technology ...
(Date:4/28/2016)...  While Abbott,s announced purchase of St. Jude ... and stent business, healthcare research firm Kalorama Information ... into patient monitoring.  Kalorama said that patient monitoring ... with double-digit growth expected the next 5 years, ... Patient Monitoring . Abbott Laboratories agreed to ...
(Date:4/28/2016)... -- Treato , the single largest ... that it has been named a Cool Vendor by ... Sciences, 2016, Stephen Davies , Michael ... life-science- oriented analytics, algorithms and smart machine technology in ... medication ingestion, and analyze unstructured information.   ...
Breaking Medicine Technology: