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.
'/>"/>

Copyright©2012 ScoutNews,LLC.
All rights reserved  

Page: 1 2

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:10/22/2014)... Angeles, California (PRWEB) October 22, 2014 Hay ... 2.0: Move Beyond Addiction and Upgrade Your Life (Paperback; $10.82) ... field of Yoga & Recovery. This book is meant ... thrive in a life of recovery. , Recovery 2.0 ... the 12 Steps; Recovery 2.0 is a guide for what ...
(Date:10/22/2014)... Losing Weight Your Body’s Way , In ... in the face, it certainly can be difficult to choose ... an extra favor by doing it the healthy way? Set ... listen to your body, exercise regularly, and choose foods with ... losing weight; you need to exercise more and eat less. ...
(Date:10/22/2014)... HealthDay Reporter , TUESDAY, Oct. ... and length may be showing a genetic propensity for obesity ... genes have been linked to increased body fat, but the ... lean muscle, the researchers said. At 1 year, kids ... 2 and 3, however, these genes were linked to excessive ...
(Date:10/22/2014)... (HealthDay News) -- Measures taken by Firestone officials at ... may have limited the spread of the disease there ... Firestone Natural Rubber Co. provides health services to about ... densely populated communities. Between Aug. 1 and Sept. ... among those 80,000 people. That incidence rate of 0.09 ...
(Date:10/20/2014)... Allegheny General Hospital’s (AGH) Cardiovascular Institute is ... repair a damaged mitral valve as the heart continues ... by Abbott Vascular , is designed to treat ... in which the heart’s mitral valve leaflets fail to ... heart’s left ventricle into the left atrium. The heart ...
Breaking Medicine News(10 mins):Health News:Hay House Announces The Official Release of Recovery 2.0: Move Beyond Addiction and Upgrade Your Life 2Health News:Hay House Announces The Official Release of Recovery 2.0: Move Beyond Addiction and Upgrade Your Life 3Health News:ReductionGuruMD Presents Ways to Improve Your Weight Loss Results 2Health News:Tall, Heavy 1-Year-Olds May Be at Risk for Obesity Later, Study Finds 2Health News:Tire Company Sets Standard for Ebola Care in Liberia: CDC 2Health News:Allegheny General Hospital Introduces New, Beating-Heart Procedure for Mitral Valve Repair 2Health News:Allegheny General Hospital Introduces New, Beating-Heart Procedure for Mitral Valve Repair 3
... top health officials of America, doctors who look after ... health scares . , Urging veterinarians to ... with contagious diseases, Dr. Julie Gerberding, director of the ... was quoted: "Thirteen out of the last 14 new ...
... worries about her family so much that they have now playfully ... reveals to America's Parade magazine that her kids are constantly making ... they get in and out of the car. ,"Dylan ... climbing or jumping outside. I always think something could happen to ...
... Sarah Doukas, Storm Model Management boss, for help to get ... has apparently has apparently started feeling old and haggard and ... revitalize her following her harsh split with drug addict Pete ... her wild behaviour and waning looks during her stormy relationship ...
... largest in the US, is believed to have agreed to ... settlement in recent history . ,The amount, which ... exceeded earlier reports that the settlement would be between $600 ... the Servites, Claretians and Oblates will be carved ...
... short-term recovery from arthroscopic knee surgery.The factors associated with ... be different than those found to mar long-term outcome ... women showed poorer short-term recovery than men in the ... people with osteoarthritis also did not do as well ...
... of a novel protein in the bacterium that is ... has been solved . ,Hauptman-Woodward Institute scientists ... in collaboration with researchers at the University at Buffalo ... Bioinformatics and Life Sciences have made this significant discovery ...
Cached Medicine News:Health News:Vets To Team Up With Human Health Specialists 2Health News:Los Angeles Diocese Opts for Huge Payout in Sexual Abuse Cases 2Health News:Poor Short Term Recovery from Knee Surgery in Women 2Health News:Protein Structure of Pathogens Associated With CF and TB Solved 2
(Date:10/22/2014)... -- Moms are ready to live the "measured life" ... kids, according to the results of the BabyCenter® U.S. ... for Moms, the latest installment in BabyCenter,s 21 st ... and parenting web and mobile destination worldwide, conducted the ... say they can,t think of a reason not to ...
(Date:10/22/2014)... , Oct. 22, 2014  CryoLife, Inc. (NYSE: ... tissue processing company focused on cardiac and vascular surgery, ... President and Chief Executive Officer, has been elected to ... Steven G. Anderson , Executive Chairman ... has proven to be an excellent leader who is ...
(Date:10/22/2014)... , Oct. 21, 2014  Early symptoms of ... or unnoticed, but new technology, coupled with yearly, ... leading to earlier detection of eye diseases, including ... million Americans. If left untreated, these diseases can ... Recently, optometric researchers have deployed ...
Breaking Medicine Technology:BabyCenter Finds Mom Ready to Live the "Measured Life" in its U.S. Mobile Mom 2014 Report: Health & Fitness Go Mobile for Moms 2BabyCenter Finds Mom Ready to Live the "Measured Life" in its U.S. Mobile Mom 2014 Report: Health & Fitness Go Mobile for Moms 3BabyCenter Finds Mom Ready to Live the "Measured Life" in its U.S. Mobile Mom 2014 Report: Health & Fitness Go Mobile for Moms 4Pat Mackin Joins CryoLife Board of Directors 2Pat Mackin Joins CryoLife Board of Directors 3Technology Advancements Enhance Early Detection of Eye Diseases Associated with Diabetes 2Technology Advancements Enhance Early Detection of Eye Diseases Associated with Diabetes 3
... Inc. (OTCBB: UGNE), a leader in the ... the appointment of Thomas J. Sabatino, Jr. to its Board ... President and General Counsel for Walgreen Co., (NYSE: ... IL.  He joined Walgreens in September 2011 after having held ...
... Amsterdam Molecular Therapeutics (Euronext: AMT), a leader ... that the European Medicines Agency (EMA) has granted orphan ... of hemophilia B. Orphan designation in the European Union ... from product launch and access to the central authorization ...
Cached Medicine Technology:Unigene Strengthens Board with the Appointment of Walgreen's Executive, Thomas J. Sabatino, Jr. 2Unigene Strengthens Board with the Appointment of Walgreen's Executive, Thomas J. Sabatino, Jr. 3Unigene Strengthens Board with the Appointment of Walgreen's Executive, Thomas J. Sabatino, Jr. 4Amsterdam Molecular Therapeutics Receives Orphan Designation in the European Union for Hemophilia B Gene Therapy 2
... Craftsmanship have produced the finest ... Ocutek now makes them available ... the coveted Meisterbrief certificate, which ... qualified to become Ocutek instrument ...
... of German Craftsmanship have produced ... the world. Ocutek now makes ... holders of the coveted Meisterbrief ... apprenticeship, are qualified to become ...
... Centuries of German Craftsmanship have ... in the world. Ocutek now ... Only holders of the coveted ... eight-year apprenticeship, are qualified to ...
Medtronic Ophthalmics offers a comprehensive selection of corneal trephine,blades and handles. Handcrafted, sharp, uniform blade edges promote a,symetrical and vertical cut of all corneal layers....
Medicine Products: