Navigation Links
Disease that stunts infants' growth traced to same gene that makes kids grow too fast
Date:5/29/2012

UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants' growth. The twist? The mutation occurs on the same gene that causes BeckwithWiedemann syndrome, which makes cells grow too fast, leading to very large children.

Published in the May 27 edition of the journal Nature Genetics, the UCLA findings could lead to new ways of blocking the rapid cell division that allows tumors to grow unchecked. The discovery also offers a new tool for diagnosing children with IMAGe syndrome, which until now has been difficult to identify accurately.

The discovery holds special significance for principal investigator Dr. Eric Vilain, a professor of human genetics, pediatrics and urology at the David Geffen School of Medicine at UCLA.

Nearly 20 years ago, as a medical resident in his native France, Vilain cared for two boys, ages 3 and 6, who were dramatically short for their ages. Though unrelated, the children shared a mysterious malady marked by minimal fetal development, stunted bone growth, sluggish adrenal glands, and undersized organs and genitals.

"I never found a reason to explain these patients' unusual set of symptoms," said Vilain, who also directs the UCLA Institute for Society and Genetics. "I've been searching for the cause of their disease since 1993."

When Vilain joined UCLA as a genetics fellow, the two cases continued to intrigue him. His UCLA mentor at the time, geneticist Dr. Edward McCabe, recalled a similar case from his previous post at Baylor College of Medicine. The two of them obtained blood samples from the three cases and analyzed the patients' DNA for mutations in suspect genes but uncovered nothing.

Vilain and McCabe approached the Journal of Clinical Endocrinology and Metabolism and in 1999 published the first description of the syndrome, which they dubbed IMAGe, an acronym of sorts for the condition's symptoms: intraut
'/>"/>

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

Page: 1 2 3 4

Related medicine news :

1. Early life stress may predict cardiovascular disease
2. Study finds racial gaps continue in heart disease awareness
3. Bowel disease link to blood clots
4. Womens Heart Disease Awareness Still Lacking
5. American Heart Association Rapid Access Journal Report: Study Finds Racial Gaps Continue in Heart Disease Awareness, Low Knowledge of Heart Attack Warning Signs Among Women
6. New Study Uses Adult Stem Cells in Effort to Save Limbs of Patients with Peripheral Arterial Disease
7. Patients with Lethal Lung Disease Finally Receive Recognition by Social Security Administration
8. Alzheimers Foundation of America Applauds Social Security for Speeding Disability Benefits for Early-Onset Alzheimers Disease
9. New American Heart Association Survey Finds Heart Disease and Stroke Patients Face Significant Barriers in Obtaining Quality, Affordable Care
10. Hypnosis can relieve symptoms in children with respiratory diseases
11. IU research team discovers TB disease mechanism and molecule to block it
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/29/2014)... (PRWEB) July 29, 2014 Gout was one ... lifestyles have proven that last statement essentially moot since ... many people still do not have are the resources to ... is it costly to maintain treatment for it, but the ... daily activities to a grinding halt. , Alternative ...
(Date:7/29/2014)... 2014 Couples rule at Maui's only Forbes ... This September through November, the focus is on activities ... couples of all ages and interests. Best of all, ... of the Resort's popular Experience More package , with ... sale" is in full swing in the award-winning restaurants, spa ...
(Date:7/29/2014)... his latest blog post at http://www.perwickstrom.com , entrepreneur, author, ... 6 ways to light the “fire” in employees. , “Employers ... for some it’s a losing battle,” commented Per Wickstrom ... help employees get to the next level; which not only ... to Per Wickstrom, 6 ways to light the “fire” in ...
(Date:7/29/2014)... Nuanced Media, a leading digital marketing ... (Health Insurance Portability and Accountability Act) certified firm. ... and transfer of Personal Health Information (PHI). By ... Media can effectively serve their medical industry clients. , ... offer medical industry specific products such as medical ...
(Date:7/28/2014)... July 29, 2014 Treat skin to a ... Sublime Beauty®. , Today and tomorrow only (while supplies last), ... "The cleanser is ideal for two specific users: , 1) ... unclogged and bacteria free, and , 2) aging skin to ... says Kathy Heshelow, founder of Sublime Beauty®. , Those with ...
Breaking Medicine News(10 mins):Health News:Gout Natural Remedy Report Review | The Ultimate Secret to Eliminating Gout Naturally – Vinamy.com 2Health News:Four Seasons Resort Maui at Wailea Goes All Out to Give Couples Memorable Get-Away this Fall at Maui’s Luxury Resort 2Health News:Four Seasons Resort Maui at Wailea Goes All Out to Give Couples Memorable Get-Away this Fall at Maui’s Luxury Resort 3Health News:Per Wickstrom’s Latest Blog Post Lists 6 Ways to Light the “Fire” in Employees 2Health News:Nuanced Media Web Design Agency Now Hipaa Certified 2Health News:Clear, Clean Skin With the New Salicylic Wash from Sublime Beauty®; Enlivens Skin, Unclogs Pores 2
... (CRC) is the second leading cause of cancer-related ... frequently develops metachronous metastasis following treatment of CRC. ... infection finally reduces the risk of intrahepatic metastasis ... survival rate and therefore can be considered an ...
... by the University of Liverpool has found that systemic inflammation ... occurs naturally in a type of roundworm. Sepsis ... to infection. The body becomes overwhelmed by bacteria, setting off ... It affects around 20 million people worldwide each year, ...
... By Amanda Gardner HealthDay Reporter , MONDAY, March ... media characters such as Shrek on the package, regardless of ... we,ve probably already guessed: that young children are going to ... one of their favorite characters on it," said Keri Gans, ...
... Combining targeted therapies might be required for maximum ... to two new studies by Vanderbilt-Ingram Cancer Center ... in the Proceedings of the National Academy ... upregulation of the HER3 receptor limits the effectiveness ...
... personal bankruptcies linked to medical bills or illness changed ... after the implementation of its landmark 2006 law requiring ... The new study, which appears in today,s ... 2007 and mid-2009, the share of all Massachusetts bankruptcies ...
... HealthDay Reporter , MONDAY, March 7 (HealthDay News) ... engineering, researchers report that they,ve been able to repair injured ... a laboratory. Currently, physicians use pieces of skin to ... car accidents or other traumas, but the procedure often fails. ...
Cached Medicine News:Health News:Roundworm could provide new treatment for sepsis 2Health News:Cartoon Branding Affects Kids' Cereal Choice, Regardless of Taste 2Health News:Cartoon Branding Affects Kids' Cereal Choice, Regardless of Taste 3Health News:Hit multiple targets for maximum benefit in HER2-positive breast cancer, studies suggest 2Health News:Massachusetts reform hasn't stopped medical bankruptcies: Harvard study 2Health News:Massachusetts reform hasn't stopped medical bankruptcies: Harvard study 3Health News:Lab-Grown Urethra Used to Replace Damaged Tube 2
(Date:7/28/2014)... July 28, 2014 Reportbuyer.com has added a ... Densitometers Market 2014-2018 https://www.reportbuyer.com/product/2225723/Global-Bone-Densitometers-Market-2014-2018.html ... scan is a special type of X-ray test used ... is used primarily to detect osteopenia or osteoporosis, diseases ... risk of fractures is high. The purpose of bone ...
(Date:7/28/2014)... , July 28, 2014 Reportlinker.com announces ... in its catalogue: Portugal Pharmaceuticals ... http://www.reportlinker.com/p0207141/Portugal-Pharmaceuticals-and-Healthcare-Report-Q3-2014.html Includes ... View: Faster-than-expected economic growth last quarter has led ... slightly upwards. As forecast previously, BMI expects ...
(Date:7/28/2014)... NORWALK, Conn. , July 28, 2014  UBM ... , a leading online community for medical imaging professionals, ... value in value-based payment models . The ... in identifying how the radiologist,s reimbursement is determined ... article features insight from leaders in the field, who ...
Breaking Medicine Technology:Global Bone Densitometers Market 2014-2018 2Global Bone Densitometers Market 2014-2018 3Global Bone Densitometers Market 2014-2018 4Global Bone Densitometers Market 2014-2018 5Portugal Pharmaceuticals and Healthcare Report Q3 2014 2Portugal Pharmaceuticals and Healthcare Report Q3 2014 3Portugal Pharmaceuticals and Healthcare Report Q3 2014 4Diagnostic Imaging Delves into Measuring the Radiologist's Value 2
... Calif., July 15, 2011 Amgen (NASDAQ: ... States (U.S.) District Court in Pennsylvania has entered ... Pharmaceutical Industries Ltd. and Teva Pharmaceuticals USA prohibiting ... G-CSF (granulocyte colony-stimulating factor) and methods for its ...
... EDISON, N.J., July 15, 2011 Crestor ... designed to lower "bad cholesterol". Both drugs are classified ... inhibiting HMG-CoA reductase. This group of drugs has had ... to Crestor and Zocor, touted as a "super statin" ...
Cached Medicine Technology:Amgen Resolves G-CSF Patent Litigation With Teva 2Crestor and Zocor Drugs Linked to Muscle Degeneration, Rhabdomyolysis 2
The Biopro Cox comb cup is manufactured from titanium and is porous coated on the outside of the shell. The Cox comb cup accommodates a polyethylene insert....
The Plasmacup SC satisfies two important requirements: high primary stability and a low friction bearing surface....
... The integration of Trabecular Metal ... proven implant design results in a ... not only meets surgeon demands for ... provides a wide variety of shell ...
The cementless BiHAPro cup combines proven concepts with the latest innovations in cementless THR....
Medicine Products: