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:6/25/2016)... ... ... First Choice Emergency Room , the largest network of independent freestanding ... of its new Mesquite-Samuell Farm facility. , “We are pleased to announce Dr. ... James M. Muzzarelli, Executive Medical Director of First Choice Emergency Room. , Dr. ...
(Date:6/25/2016)... ... June 25, 2016 , ... Dr. Calvin Johnson ... Recently, he has implemented orthobiologic procedures as a method for treating his patients. ... the first doctors to perform the treatment. Orthobiologics are substances that orthopaedic surgeons ...
(Date:6/25/2016)... ... 2016 , ... Conventional wisdom preaches the benefits of moderation, whether it’s a ... the bar too high can result in disappointment, perhaps even self-loathing. However, those who ... , Research from PsychTests.com reveals that behind the tendency to set ...
(Date:6/24/2016)... ... ... Those who have experienced traumatic events may suffer from a complex set ... drug or alcohol abuse, as a coping mechanism. To avoid this pain and suffering, ... traumatic event. , Trauma sufferers tend to feel a range of emotions, from depression, ...
(Date:6/24/2016)... (PRWEB) , ... June 24, 2016 , ... Marcy was in a crisis. Her son ... lash out at his family verbally and physically. , “When something upset him, he couldn’t ... would use it. He would throw rocks at my other children and say he was ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... Research and Markets has ... 2015-2025: Applications, Technologies, Forecasts" report to their ... Electronics, Smart Skin, Structural Health Monitoring, Composite Smart ... electronics involves electronic and/or electrical components and circuits ... structures such as vehicle bodies or conformally placed ...
(Date:6/24/2016)... , June 24, 2016 ... Market by Type (Standard Pen Needles, Safety Pen Needles), ... (Insulin, GLP-1, Growth Hormone), Mode of Purchase (Retail, Non-Retail) ... MarketsandMarkets, This report studies the market for the forecast ... to reach USD 2.81 Billion by 2021 from USD ...
(Date:6/23/2016)... 23, 2016 Research and Markets has ... - Forecast to 2022" report to their offering. ... for the patients with kidney failure, it replaces the function ... the patient,s blood and thus the treatment helps to keep ... in balance. Increasing number of ESRD patients ...
Breaking Medicine Technology: