Navigation Links
Gene Mutation Linked to Facial, Skull Abnormalities
Date:7/12/2012

THURSDAY, July 12 (HealthDay News) -- A gene mutation linked to facial and skull abnormalities, as well as impairment of thinking skills, has been identified by scientists who confirmed their findings in zebrafish.

Although the discovery may not lead to a cure for people with the mutated gene, it could someday lead to genetic screening and possibly early interventions, suggested the researchers from the Medical College of Georgia at Georgia Health Sciences University in Augusta.

In conducting the study, the scientists examined patients with a rare disorder known as Potocki-Shaffer syndrome, which can result in a small head and chin and intellectual disability. The investigators found that the patients had a mutated PHF21A gene. They were able to isolate the gene using a distinct chromosomal break found in patients with the condition.

"We call this breakpoint mapping, and the breakpoint is where the trouble is," study co-author Dr. Lawrence Layman, chief of the college's section of reproductive endocrinology, infertility and genetics, explained in a university news release.

The investigators pointed out that damaged genes may not function normally, and, in this case, PHF21A's functioning was reduced by about half. To confirm the role this gene played in the abnormalities seen in head formation and brain skills, they suppressed the gene in zebrafish. The study revealed the fish developed similar head and brain defects.

"With less PHF21A, brain cells died, so this gene must play a big role in neuron survival," said the study's lead author, Dr. Hyung-Goo Kim, a molecular geneticist at the university.

To verify their findings, the researchers unsuppressed the gene in the zebrafish. Because they have some ability to regenerate, the fish returned to normal. It is important to note that research involving animals often doesn't have implications for humans, and humans can't be cured in the same way as zebrafish.

The researchers said, however, that the study provides insight into face, skull and brain formation. The findings could lead to the development of genetic screening or intervention in the womb to increase PHF21A levels.

More research is needed to identify other genes regulated by PHF21A and screen patients for additional mutations, the study authors added.

"We want to find other people with different genes causing the same problem," Layman said. "Now that we know the causative gene, we can sequence the gene in more patients and see if they have a mutation."

The study was published this month in the American Journal of Human Genetics.

More information

The U.S. Office of Rare Diseases Research has more about Potocki-Shaffer syndrome.

-- Mary Elizabeth Dallas

SOURCE: Georgia Health Sciences University, news release, July 5, 2012


'/>"/>
Copyright©2012 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. Study finds new gene mutations that lead to enlarged brain size, cancer, autism, epilepsy
2. Mutations in JAK3 gene identified in subtype of lymphoma provide potential drug target
3. Study sheds new light on role of genetic mutations in colon cancer development
4. Mutations impair childhood growth and development by disrupting organization of chromosome pairs
5. Cancer may require simpler genetic mutations than previously thought
6. Scientists make breakthrough in bile duct cancer with discovery of new gene mutations
7. Mayo Clinic breast cancer study finds new type of mutation
8. Researchers Find Gene Mutations That May Be a Key to Autism
9. KRAS gene mutation and amplification status affects sensitivity to antifolate therapy
10. Myelodysplastic Syndrome Linked to Abnormal Stem Cells
11. Scientists identify gene linked to facial, skull and cognitive impairment
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Gene Mutation Linked to Facial, Skull Abnormalities
(Date:6/27/2016)... ... June 27, 2016 , ... "FCPX editors can now ... of Final Cut Pro X," said Christina Austin - CEO of Pixel Film Studios. ... Final Cut Pro X users can now reveal the media of their split ...
(Date:6/27/2016)... ... June 27, 2016 , ... A revolution is underway. ... ambulance transport experience for the millions of people who require these medical transport ... taxi industry through the use of technology. Now, SmartEMS has put forth an ...
(Date:6/26/2016)... ... , ... On June 10-11, 2016, A Forever Recovery, a holistic treatment center ... Breakfast Table in Battle Creek, MI, where the rehabilitation facility is located. This annual ... the world’s leading providers of cereal and other breakfast foods. Its residents often refer ...
(Date:6/26/2016)... (PRWEB) , ... June 26, 2016 , ... Brent Kasmer, a legally blind and certified ... be personalized through a fitness app. The fitness app plans to fix the two major ... only offer a one size fits all type program , They don’t eliminate ...
(Date:6/25/2016)... ... June 25, 2016 , ... Austin residents seeking Mohs surgery services, can now ... and to Dr. Russell Peckham for medical and surgical dermatology. , Dr. Dorsey brings ... The selective fellowship in Mohs Micrographic Surgery completed by Dr. Dorsey was under the ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... 24, 2016 Research and Markets has ... Companion Diagnostic Tests" report to their offering. ... Diagnostics The World Market for Companion Diagnostics ... diagnostics. Market analysis in the report includes the following: ... Vitro Diagnostic Kits) by Region (N. America, EU, ROW), 2015-2020 ...
(Date:6/24/2016)... , June 24, 2016 ... appointment of Dr. Edward Futcher to ... Director, effective June 23, 2016.Dr. Futcher was also ... and Governance Committees.  As a non-executive member of ... expertise and strategic counsel to VolitionRx in connection ...
(Date:6/23/2016)... 2016 Research and Markets has announced ... Forecast to 2022" report to their offering. ... the patients with kidney failure, it replaces the function of ... patient,s blood and thus the treatment helps to keep the ... balance. Increasing number of ESRD patients & ...
Breaking Medicine Technology: