Navigation Links
Same gene that stunts infants' growth also makes them grow too big
Date:5/27/2012

the building blocks for our bodies. Most of the human diseases resulting from mutations in a single gene can be blamed on changes in a protein-coding sequence. By scanning the entire exome, or protein-coding factory of the genome, clinical geneticists can interpret every gene variant to track down the mutations that produce a patient's disease and rapidly reach a clear-cut diagnosis.

UCLA is one of only three academic centers in the nation that offers next-generation sequencing to the public for clinical use.

"We discovered a mutation in a tiny sliver of the chromosome that appeared in every family member affected by IMAGe syndrome," said Vilain. "This was a big step forward. Now we can use gene sequencing as a tool to screen for the disease and diagnose children early enough for them to benefit from medical intervention.

"We were a little surprised, because the mutation was located on a famous gene recognized for causing Beckwith-Wiedemann syndrome," he added. "The two diseases are polar opposites of each other."

Children born with Beckwith-Wiedemann syndrome named for the two doctors who discovered it grow very large with big adrenal glands, elongated bones and oversized internal organs. Because their cells grow so fast, children with the disorder typically die of cancer at a young age. The disease affects one in 15,000 births.

"Finding opposite functions in the same gene is a rare biological phenomenon" emphasized Vilain. "When the mutation appeared in the slim section we identified, the infant developed IMAGe syndrome. If the mutation fell anywhere else in the gene, the child was born with Beckwith-Wiedemann. That's really quite remarkable."

IMAGe syndrome patients also tend to die young due to poor adrenal activity, which physicians treat with hormone-replacement therapy.

The findings proved that Vilain and his colleagues had identified the correct mutation, bringing his 20-year odyss
'/>"/>

Contact: Elaine Schmidt
eschmidt@mednet.ucla.edu
310-794-2272
University of California - Los Angeles Health Sciences
Source:Eurekalert

Page: 1 2 3 4

Related biology news :

1. Reducing diet early in pregnancy stunts fetal brain development
2. Lack of vitamin D causes weight gain and stunts growth in girls
3. Low-income moms under stress may overfeed infants
4. Women & Infants participating in study of treatment of common viral infection in pregnancy
5. Treatment to benefit African infants at risk of endemic fever
6. New analysis of premature infants heartbeats, breathing could be cues for leaving NICU
7. New autism research reveals brain differences at 6 months in infants who develop autism
8. Brain-imaging differences evident at 6 months in infants who develop autism
9. Early motor experiences give infants a social jump start
10. Screening very preterm infants for autism at 18 months often inaccurate
11. Maternal obesity puts infants at risk
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/28/2014)... U.S. cities that have seen an increase in so-called ... closures, overwhelmed storm drains and compromised infrastructure--are on the ... , This nuisance flooding, caused by rising sea levels, ... and 925 percent since the 1960s. , The report, ... the United States, also finds Annapolis and Baltimore, Maryland, ...
(Date:7/28/2014)... found that 73 percent of adult survivors of childhood ... syndrome and related health problems by failing to follow ... issue of the journal Cancer . , Almost ... cancer in the study had metabolic syndrome, an umbrella ... abdominal obesity, elevated triglyceride and other abnormalities that often ...
(Date:7/28/2014)... and treat HIV infection has been problematic until now ... arouse as they get rid of the invaders. Now, ... and the National Institutes of Health (NIH) have demonstrated ... around the time of infection could have long-term ... appeared in Nature . , Interferons, named ...
Breaking Biology News(10 mins):NOAA: 'Nuisance flooding' an increasing problem as coastal sea levels rise 2NOAA: 'Nuisance flooding' an increasing problem as coastal sea levels rise 3Unhealthy habits more than double risk of metabolic syndrome in childhood cancer survivors 2Unhealthy habits more than double risk of metabolic syndrome in childhood cancer survivors 3Interfering with interferon 2
... during deployments, U.S. Army units can gain tactical ... and post-conflict operations, and boost overall mission success, ... The study finds that commanders have not ... despite the effect environmental conditions can have on ...
... 23, 2008 Researchers at Sentara Cardiovascular Research Institute begin ... effectiveness of stents to open airways of patients with ... The EASE (Exhale Airway Stents for Emphysema) Trial ... to create new pathways to release trapped air from ...
... out of every three Americans is obese. These individuals are ... to other health problems, such as diabetes. ... the muscle. As a result, accumulated fat by-products inside ... of fat by-products, fat must either be oxidized (burned, as ...
Cached Biology News:Army can boost mission success by better managing 2Army can boost mission success by better managing 3Army can boost mission success by better managing 4Sentara begins international trial -- open at only 24 US locations 2For insulin sensitive overweight patients, 1 session of exercise improves metabolic health 2
(Date:7/25/2014)... California (PRWEB) July 25, 2014 Lawrence ... named to Thomson Reuters list of " The World's ... are part of the 3,000 researchers who were identified ... to recognize those who published the highest-impact work (2002-2012 ... research papers on combustion modeling . , "This ...
(Date:7/25/2014)... At the request of the AMA, ... extension for the public comment period (Docket No. FAA-2014-0396) ... Aircraft established by Congress as part of the FAA ... establishes the new deadline for comments as September 23, ... notice published in the Federal Register on July 25, ...
(Date:7/24/2014)... Tenn., July 24, 2014 -- A novel combination of ... Department of Energy,s Oak Ridge National Laboratory an unprecedented ... its unusual physical and electrochemical properties. , The ... oxygen affects the surface of a perovskite manganite, a ... The new avenue to understand surface behavior could benefit ...
(Date:7/24/2014)... 24, 2014  Asterias Biotherapeutics, Inc. (OTCBB: ASTYV), ... of regenerative medicine, announced today that it will ... investors on Tuesday, July 29, 2014, at 4:30 ... include an overview of Asterias, business strategy and ... http://www.ustream.tv/channel/asterias-biotherapeutics at least 15 minutes before ...
Breaking Biology Technology:Scientists Burst onto Influential List for Combustion Research 2Scientists Burst onto Influential List for Combustion Research 3Scientists Burst onto Influential List for Combustion Research 4FAA Grants Comment Extension at the Request of AMA 2ORNL study reveals new characteristics of complex oxide surfaces 2Asterias Biotherapeutics Announces Live Investor Webcast 2Asterias Biotherapeutics Announces Live Investor Webcast 3Asterias Biotherapeutics Announces Live Investor Webcast 4
... - YM BioSciences Inc. (NYSE Alternext US:YMI, ... develops and commercializes differentiated products for patients ... clearance from Canadian regulatory authorities to initiate ... nimotuzumab, its EGFR-targeting antibody, in combination with ...
... Start of Q4 2008 , - Evaluation of strategic alternatives ... RoleSAN DIEGO, Jan. 5 ADVENTRX Pharmaceuticals, Inc. (NYSE Alternext ... reduction-in-force in an effort to extend its remaining cash and ... a reduction implemented in October 2008. In all, the ...
... Jan. 5 LightLab Imaging Inc. today,announced ... past year that are,the culmination of sustained ... These advances significantly increase the Company,s leadership,position ... OCT is a new,high-resolution, high-speed imaging ...
Cached Biology Technology:YM BIOSCIENCES RECEIVES CLEARANCE TO INITIATE RANDOMIZED DOUBLE-BLIND CLINICAL TRIALS OF NIMOTUZUMAB IN LUNG CANCER AND BRAIN METASTASES FROM LUNG CANCER 2YM BIOSCIENCES RECEIVES CLEARANCE TO INITIATE RANDOMIZED DOUBLE-BLIND CLINICAL TRIALS OF NIMOTUZUMAB IN LUNG CANCER AND BRAIN METASTASES FROM LUNG CANCER 3YM BIOSCIENCES RECEIVES CLEARANCE TO INITIATE RANDOMIZED DOUBLE-BLIND CLINICAL TRIALS OF NIMOTUZUMAB IN LUNG CANCER AND BRAIN METASTASES FROM LUNG CANCER 4YM BIOSCIENCES RECEIVES CLEARANCE TO INITIATE RANDOMIZED DOUBLE-BLIND CLINICAL TRIALS OF NIMOTUZUMAB IN LUNG CANCER AND BRAIN METASTASES FROM LUNG CANCER 5YM BIOSCIENCES RECEIVES CLEARANCE TO INITIATE RANDOMIZED DOUBLE-BLIND CLINICAL TRIALS OF NIMOTUZUMAB IN LUNG CANCER AND BRAIN METASTASES FROM LUNG CANCER 6YM BIOSCIENCES RECEIVES CLEARANCE TO INITIATE RANDOMIZED DOUBLE-BLIND CLINICAL TRIALS OF NIMOTUZUMAB IN LUNG CANCER AND BRAIN METASTASES FROM LUNG CANCER 7ADVENTRX Announces Further Cost-Cutting Measures 2ADVENTRX Announces Further Cost-Cutting Measures 3ADVENTRX Announces Further Cost-Cutting Measures 4ADVENTRX Announces Further Cost-Cutting Measures 5LightLab Imaging Leads Global Advancement of Intracoronary Imaging 2LightLab Imaging Leads Global Advancement of Intracoronary Imaging 3
Request Info...
5-bromouridine 5'-triphosphate (BrUTP) *10 mM in TE buffer*...
Estrogen Receptor (ER) Competitor Assay Kits Green for Estrogen Receptors-alpha and -beta (ER-Alpha and ER-Beta) are ideal for screening novel estrogen receptor binding compounds and endocrine disrup...
Prepared in distilled water....
Biology Products: