Navigation Links
Variations of a single gene can lead to too much or too little growth, study shows
Date:5/27/2012

A gene previously linked to too much growth in patients has now also been linked to growth restriction. Different forms of the gene can lead to very different conditions, according to research published today in the journal Nature Genetics.

IMAGe* syndrome is a rare developmental disorder which can affect foetal growth, resulting in smaller than average body and organ size. Without treatment, the disorder can have potentially life-threatening consequences from adrenal gland failure.

The condition was first identified twenty years ago by Eric Vilain, then a researcher in France. Now, Professor Vilain and colleagues at the University of California, Los Angeles, together with researchers at the UCL Institute of Child Health in the UK, have identified the disorder as being caused by a particular mutation of a gene known as CDKN1C, found on chromosome 11. They made their discovery after analysing DNA samples from an Argentinian family affected by IMAGe syndrome, together with existing samples from patients collected over the past two decades.

Scientists have known for some time now that CDKN1C plays an important role in regulating cell growth. Mutations of this gene have been previously associated with an 'overgrowth' syndrome called Beckwith-Wiedemann syndrome, which causes large body parts and large organs and carries an increased risk of tumours. The link with IMAGe is the first time that the gene has been associated with growth restriction.

"We discovered a mutation in chromosome 11 that consistently appeared in every family member affected by IMAGe Syndrome," explains Professor Vilain. "We were a little surprised, though, because the mutation was located on a gene previously recognised as causing Beckwith-Wiedemann Syndrome. Finding dual functions in one molecule is an unusual biological phenomenon. These two diseases are polar opposites of each other.

"The results are particularly special for me as we have
'/>"/>

Contact: Craig Brierley
c.brierley@wellcome.ac.uk
44-207-611-7329
Wellcome Trust
Source:Eurekalert

Page: 1 2

Related biology news :

1. U of MN study shows link between gene variations and cancer survival
2. Scientists uncover new genetic variations linked to psoriasis
3. The genetics of fear: Study suggests specific genetic variations contribute to anxiety disorders
4. Study finds variations in 1 gene may be associated with endurance running
5. Variations on the genetic theme
6. Rare and common genetic variations responsible for high triglyceride levels in blood
7. Gene variations that alter key enzyme linked to prostate cancer
8. Shifting forms: Penn study shows how variations of same protein affect immune response
9. DNA sequence variations linked to electrical signal conduction in the heart
10. 2 genetic variations predict second cancers after radiation for children with Hodgkin lymphoma
11. BGI develops new strategy to uncover structural variations of human genomes
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/30/2014)... shrinking ranges and a changing climate threaten some ... plants, and so conservationists establish seed collections to ... in hopes of preserving some genetic diversity., For ... simple models that offer a one-size-fits-all approach for ... saving 50 seed samples regardless of species, pollination ...
(Date:7/30/2014)... Americans make better decisions about what they eat, the ... significant changes to the Nutrition Facts label found on ... in Chemical & Engineering News (C&EN), the ... the suggested updates and the fight that has ... points out that while the Nutrition Facts label has ...
(Date:7/30/2014)... of Engineering recently received a $330,000 award from ... synthesis of organic nanorods." , According to ... and utilization of functional materials, devices, and systems ... in scaling up nanotechnology is the lack of ... one device. A research team led by Dr. ...
Breaking Biology News(10 mins):Saving seeds the right way can save the world's plants 2NSF grant to Wayne State supports new concept for manufacturing nanoscale devices 2
... ago, a tiny mayfly had a problem. Like most adult mayflies, ... no time to waste. She took her mating flight, got fertilized, and ... got stuck in some oozing tree sap and died, preserved for all ... It was a pretty rude ending to what was already going to ...
... COLUMBUS, Ohio Astronomers, research on celestial bodies ... Ohio State University astronomers are working with medical physicists ... treatment one that is intended to be tougher ... studying how chemical elements emit and absorb radiation inside ...
... Wiley of the National Oceanic and Atmospheric Administration (NOAA) and ... (Volume 148, Nos. 5-6) how humpback whales in the Gulf ... ( Megaptera novaeangliae ) are large baleen whales (up to ... dense concentrations, such as krill or herrings. Humpbacks ...
Cached Biology News:Ancient species of mayfly had short, tragic life 2Astronomers reach for the stars to discover new cancer therapy 2Astronomers reach for the stars to discover new cancer therapy 3Astronomers reach for the stars to discover new cancer therapy 4Humpback whales catch prey with bubble-nets 2
(Date:7/31/2014)... 31, 2014 Boston’s Adult Stem Cell ... with innovative adult stem cell biotechnologies. Currently the ... has three additional patent applications currently under examination by ... inventions address two of the most vexing problems in ... Adult stem cells are difficult to identify; and they ...
(Date:7/30/2014)... Regulus Therapeutics Inc . (NASDAQ: ... and development of innovative medicines targeting microRNAs, today announced ... the quarter ended June 30, 2014 on Wednesday, August ... Regulus will host a conference call and ... Eastern Daylight Time to discuss its second quarter 2014 ...
(Date:7/30/2014)... (PRWEB) July 30, 2014 W. ... the release of the REVELERIS® Prep purification ... chemists, preparative chromatographers, and other researchers to perform ... a single unit. , With the REVELERIS® Prep ... and preparative chromatography modes with a simple touch ...
(Date:7/30/2014)... SAN FRANCISCO , July 30, 2014 /PRNewswire/ ... Transplant Congress evaluated the safety and efficacy of ... antibody-mediated rejection following kidney transplants in highly sensitized ... important inhibitor of the complement system. ... results in significant increases in the levels of ...
Breaking Biology Technology:The Adult Stem Cell Technology Center, LLC Launches A Marketing Campaign To License Adult Stem Cell Biotechnologies 2The Adult Stem Cell Technology Center, LLC Launches A Marketing Campaign To License Adult Stem Cell Biotechnologies 3Regulus Announces Timing for Second Quarter 2014 Financial Results Webcast and Conference Call 2Regulus Announces Timing for Second Quarter 2014 Financial Results Webcast and Conference Call 3Grace Launches New REVELERIS® Prep Purification System 2Study Suggests C1-INH May Aid in Prevention of Antibody-Mediated Rejection Following Kidney Transplant 2Study Suggests C1-INH May Aid in Prevention of Antibody-Mediated Rejection Following Kidney Transplant 3
... molecules in a living cell is something that has long ... diamond, may well be able to do this and potentially ... for, hard-to-cure diseases such as cancer. In a ... Physics and the German Physical Society,s New Journal of ...
... & Co. Inc., a unit of Oppenheimer Holdings, is pleased ... as Managing Director in the Healthcare group of the Firm,s ... science business. He will report to Brian McCarthy, Managing Director ... 2003, Matthias had worked at JMP Securities, where he was ...
... FREMONT, Calif., May 18, 2011 Biomerix Corporation and ... Biomerix 3D Scaffold , a novel three-dimensional tissue ... the Biomerix 3D Scaffold to research institutions across Europe. ... polycarbonate polyurethane , the Biomerix 3D Scaffold is ...
Cached Biology Technology:'Critical baby step' taken for spying life on a molecular scale 2Biomerix Corporation Reaches European Distribution Agreement with Cellon S.A. 2
Transcription factor Sp2. [Source:Uniprot/SWISSPROT;Acc:Q02086] Antigen: Recombinant Protein Epitope Signature Tag (PrEST)....
Rabbit Anti-melatonin (different linkage) Polyclonal Antibody...
... [EP282Y] to Asparagine synthetase ( ... applications). Antigen: ... residues in the C-terminus of ... Entrez GeneID: 440 ...
Rabbit Anti-melatonin (different linkage) Polyclonal Antibody...
Biology Products: