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:8/22/2017)... (PRWEB) , ... August 22, 2017 , ... ... luxurious collection of unique masks and serums that perfectly fuse the beauty of ... advancements, at the 2017 Indie Beauty Expo on August 23rd & 24th in ...
(Date:8/22/2017)... ... 2017 , ... The old adage “you are what you ... healthy foods. But this well-known piece of nutrition advice ignores that an individual’s ... not only on properties of the food but also on properties of the ...
(Date:8/22/2017)... , ... August 22, 2017 , ... ... pleased to announce the addition of Zack Tisch as the firm’s new Consulting ... KLAS-ranked healthcare IT consulting firm’s national accounts, from assisting clients with initial vendor ...
(Date:8/22/2017)... CA (PRWEB) , ... August 22, 2017 , ... ... cycle management (RCM) solutions, announced recently the availability of a new professional fee ... in appreciation for their service to the healthcare industry. E/M coding is complex ...
(Date:8/22/2017)... DFW Metroplex, TX (PRWEB) , ... August 22, 2017 , ... Five Star Glass is ... They provide repair and replacement of auto glass for most makes and models, in ... area in the USA. , They have been a family owned business for the ...
Breaking Medicine News(10 mins):
(Date:8/4/2017)... , Aug. 3, 2017  Agragen, LLC, ... company active in the biopharmaceutical, nutraceutical, and aquacultural ... development of its lead drug candidates, AGR131.  This ... proinflammatory cytokine from the blood of patients suffering ... and inflammatory bowel disease. ...
(Date:8/2/2017)... -- CaryRx, a next-generation full-service pharmacy, has announced the launch ... the Washington D.C. metropolitan area. CaryRx ... of medications through the convenience of its patient-friendly mobile app. ... one hour to any location in D.C. ... service to Washington D.C. ," says Areo ...
(Date:7/28/2017)... CHICAGO, July 28, 2017 Hill-Rom Holdings, Inc. ... fiscal third quarter ended June 30, 2017, and updated ... For the fiscal third quarter, ... to $0.68 per diluted share in the prior-year period. ... of $0.39 per diluted share primarily related to the ...
Breaking Medicine Technology: