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:10/15/2014)... Geneticist Fred Alt will be awarded the 44th Rosenstiel ... University for his pioneering research exploring the mechanisms of ... and cancer cells. Alt is the second alumnus to ... the Nobel Prize in 2003. , Alt is the ... Genetics at Harvard Medical School and an investigator at ...
(Date:10/14/2014)... ATHENS, Ohio (Oct. 14, 2014)—It,s been millions of years ... but a team led by Ohio University scientists is ... to model airflow through dinosaur snouts. The research has ... not only breathe but to enhance the sense of ... pretty ,nosy, animals," said Ohio University doctoral student Jason ...
(Date:10/14/2014)... 2014 – High doses of fish oil supplements, rich in ... type of irregular heartbeat in which the heart can beat ... the AFFORD trial led by the Montreal Heart Institute were ... Cardiology on October 7th. , For the trial, 337 ... randomly assigned to 4 grams of fish oil a day ...
Breaking Biology News(10 mins):Brandeis awards 44th Rosenstiel Award to pioneering geneticist Fred Alt 2Dinosaur breathing study shows that noses enhanced smelling and cooled brain 2Dinosaur breathing study shows that noses enhanced smelling and cooled brain 3
... will be meeting in Greenville, SC next week as ... of America (ESA) get together for their 88th annual ... Center, March 2-5, 2014. The meeting will feature ... an awards ceremony, and an insect photo salon. ...
... New research from Plymouth State University and the ... horseshoe crabs for biomedical purposes causes short-term changes in ... population decline in parts of the east coast. ... blue blood from almost half a million living horseshoe ...
... -- There are more than a trillion cells called neurons ... of these neurons contains millions of proteins that perform different ... networks of the brain still remains as a mystery that ... time, a group of scientists has been able to observe ...
Cached Biology News:Southern insect scientists meeting in Greenville, S.C. 2Biomedical bleeding affects horseshoe crab behavior 2Biomedical bleeding affects horseshoe crab behavior 3Watching how the brain works 2
(Date:10/22/2014)... The Americas Inorganic Refrigerants Market ... in Americas with analysis and forecast of revenue. ... Inorganic Refrigerants Market report, to get an idea ... a glimpse of the segmentation in the Americas ... tables and figures. , http://www.micromarketmonitor.com/market/americas-inorganic-refrigerants-4191654241.html ...
(Date:10/22/2014)... October 22, 2014 WriteResult, LLC ... – has been working with a team of researchers ... Haven Farms Community Farming Collaborative to provide electronic questionnaire ... The study, which started in May, aims to ... provides participants weekly exposure to and participation in urban ...
(Date:10/22/2014)... According to new market research report "Cloud ... Deployment & Support), by Service Model (SaaS, PaaS, ... (Hybrid & Community)) - Global Forecast to 2019", ... Professional Services Market into various sub-segments with an ... identifies the drivers and restraints for this market ...
(Date:10/22/2014)... Oct. 22, 2014 Research and Markets ... Market by Material, by Application, Geography - Global Analysis ... offering. Organic electronics, also called as ... material science which deals with small conductive molecules and ... small molecules and polymers are carbon based, made using ...
Breaking Biology Technology:The Americas Inorganic Refrigerants Market is estimated to grow to $71.6 million by 2018 - New Report by MicroMarket Monitor 2The Americas Inorganic Refrigerants Market is estimated to grow to $71.6 million by 2018 - New Report by MicroMarket Monitor 3myPROpad™ Topic of Panel Discussion at the Yale Food Systems Symposium 2myPROpad™ Topic of Panel Discussion at the Yale Food Systems Symposium 3Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 2Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 3Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 4Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 5Global Organic Electronics (Semiconductor, Conductive, Dielectric and Substrate) Market - Analysis and Forecast (2014 - 2020) 2Global Organic Electronics (Semiconductor, Conductive, Dielectric and Substrate) Market - Analysis and Forecast (2014 - 2020) 3
... Use in any standard fixed-angle ... 16,000 g.,Spin- centrifuge tube filters ... within a centrifuge tube. They filter ... removal, HPLC sample preparation, removal of ...
... in any standard fixed-angle microcentrifuge rotor ... g.,Spin- centrifuge tube filters consist of ... centrifuge tube. They filter by centrifugation ... sample preparation, removal of cells from ...
HybriWell seals securely to a microscope slide surface in seconds to enclose single or multiple specimens in a small reagent volume and eliminate evaporation....
... depth • Reusable, press-to-seal gasket and cover ... and disassembled for hybridizing and imaging thick ... with up to a 13 mm diameter. ... Minimize specimen handling, eliminate evaporation and leaking ...
Biology Products: