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:1/16/2017)... ... January 16, 2017 , ... Date ... http://www.ageofautism.com/legal , Sharon Kleyne, America’s leading water educator, researcher and advocate ... syndicated radio program, The Sharon Kleyne Hour Power of Water, Global Climate Change ...
(Date:1/16/2017)... Francisco, CA (PRWEB) , ... January 16, 2017 , ... ... incorporation of iTero Element, the latest in 3-D scanning device which is capable of ... of the latest advances in dentistry, such as CAD CAM restorations , in ...
(Date:1/15/2017)... ... January 15, 2017 , ... ... is a program that strives to better communities around the world by offering ... It also provides the opportunity for team members to become involved in a ...
(Date:1/15/2017)... (PRWEB) , ... January 15, 2017 , ... ... choice of best physicians in eight Bay Area counties for 2017. Almost 1,000 ... healthcare research company managing the award process. Results were announced the magazine’s ...
(Date:1/14/2017)... ... January 14, 2017 , ... Healthy ... expanding line of activated charcoal products. With more and more people opting to ... products according to how they cater to specific needs. , Moody Zook focused ...
Breaking Medicine News(10 mins):
(Date:1/16/2017)... India , January 16, 2017 According to a ... Global Opportunity Analysis and Industry Forecast, 2014 - 2022," the global antioxidants market ... 2022, registering a CAGR of 6.42% during the forecast period. In the natural ... global volume in 2015. Continue Reading ... ...
(Date:1/16/2017)... Jan. 16, 2017  Today, Analytics 4 Life (A4L), ... announced its expansion into JLABS @ Toronto ... science incubators. As a resident in the space, A4L ... device development and commercialization expertise. JLABS @ ... innovation center that provides a flexible environment for start-up ...
(Date:1/15/2017)... Le conseil d,administration de SurgaColl Technologies ... pour la régénération de tissus humains, annonce la nomination de ... avec effet immédiat. ... Bill est un dirigeant expérimenté à l,international dans ... gestion générale et de direction au sein de sociétés internationales ...
Breaking Medicine Technology: