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

0

GOOD

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:5/18/2013)... of coffee is associated with a reduced risk ... disease, Mayo Clinic research shows. The findings were ... conference in Orlando, Fla. , PSC is ... results in inflammation and subsequent fibrosis that can ... and biliary cancer. , "While rare, PSC has ...
(Date:5/18/2013)... (PRWEB) May 18, 2013 Transvaginal ... products continue to move forward in a consolidated litigation ... Liebhard LLP reports. According to a notice on the ... Ethicon pelvic mesh litigation will be held on Wednesday, ... have been filed in the proceeding on behalf of ...
(Date:5/18/2013)... TheBeautyPlace.com answers important questions about the ... not a result of stress, nutrient deficiency or wearing ... 70% of men suffer from male patterned baldness. ... for hair transplant surgery, but additionally carries a hair ... as Bosley Professional Strength. Their product line is a ...
(Date:5/18/2013)... PA (PRWEB) May 18, 2013 Simple ... indulging in healthy snacks and drinking more water can ... loss and, ultimately, a healthier lifestyle overall. Diet ... achieve the best weight loss can be difficult and ... into their diet plans to help patients get over ...
(Date:5/18/2013)... The Ayurvedic practitioner program will be ... the West. Program is available in Mexico via Live ... healing modality practiced for over 5,000 years. In Ayurvedic ... health begins when an individual lives in harmony with ... needs. Ayurveda aims to heal an individual in all ...
Breaking Medicine News(10 mins):Health News:Transvaginal Mesh Lawsuits: Bernstein Liebhard LLP Notes Upcoming Case Management Conference in New Jersey Ethicon Pelvic Mesh Litigation 2Health News:Transvaginal Mesh Lawsuits: Bernstein Liebhard LLP Notes Upcoming Case Management Conference in New Jersey Ethicon Pelvic Mesh Litigation 3Health News:TheBeautyPlace.com Features the Two New Best-Selling Hairloss Products: Bosley Professional Strength and Nioxin Systems 2Health News:TheBeautyPlace.com Features the Two New Best-Selling Hairloss Products: Bosley Professional Strength and Nioxin Systems 3Health News:hCGTreatments / Diet Doc hCG Diets & Weight Loss Plans Announce the Best Weight Loss Through New Whole Foods, Healthy Snacks and Prescription Strength hCG Treatments 2Health News:hCGTreatments / Diet Doc hCG Diets & Weight Loss Plans Announce the Best Weight Loss Through New Whole Foods, Healthy Snacks and Prescription Strength hCG Treatments 3Health News:Ayurveda Training in Mexico Offered by Escuela de Ayurveda de California, a Leading Institution in the West 2
... that hospitals spend on environmental services, such as cleaning ... patient satisfaction scores as the way the money is ... on improving the efficiency of operations, hospitals can contribute ... of the financial investments they make toward support services," ...
... 17 (HealthDay News) -- Compared with older people with no signs ... are twice as likely to experience a fall, researchers have found. ... 125 older adults who were participating in a study of memory ... how many times they fell over the course of eight months. ...
... Ill. -- Retired NFL football players are at higher risk ... Alzheimer,s disease, a Loyola University Health System study has found. ... wives found that 35 percent of the players had scores ... 61. , "It appears there may be a very high ...
... As you enjoy outdoor activities this summer, don,t forget to keep ... feel nice, but it brings certain risks. For example, people who ... teen have more than double the risk of developing melanoma, the ... the Skin Cancer Foundation. Dermatologists at the University of Michigan ...
... state and federal efforts to reform payments to doctors ... Medical School researchers found that a global payment system ... quality of patient care relative to the traditional fee-for-service ... New England Journal of Medicine, examined the Alternative ...
... , FRIDAY, July 15 (HealthDay News) -- The ... reactions to small amounts of alcohol, a new study finds. ... 20s after they drank a small amount of red wine ... the wine, participants, left ventricular function decreased, according to the ...
Cached Medicine News:Health News:Value of hospital environmental services linked to efficiency not expenses 2Health News:Value of hospital environmental services linked to efficiency not expenses 3Health News:Falls Could Signal Early Alzheimer's Disease 2Health News:Retired NFL players at higher risk for mild cognitive impairment 2Health News:New health-care payment system slows spending while improving patient care 2Health News:Alcohol Affects Left, Right Heart Chambers Differently 2
(Date:5/17/2013)... , May 17, 2013  TechAtlas Group ... for their competitive landscape map for the Chronic ... over 90 international companies with drugs and devices ... CKD and its sequelae. (Logo:  ... , hypertension - renal denervation ...
(Date:5/17/2013)... Puerto Rico , May 17, 2013  Serving ... Puerto Rico , Caribbean Imaging and Radiation ... improved its radiation therapy capabilities with the acquisition of an ... Rico . Versa HD offers clinicians the versatility to ... throughout the body, while also enabling treatment of highly complex ...
(Date:5/17/2013)... 2013  PENTAX Medical, a healthcare industry leader ... leader in ultrasound imaging, recently announced renewed collaborative ... further innovation in the development of Endoscopic Ultrasound ... and PENTAX Medical endoscopic portfolio have formed one ... systems. This agreement will continue to grow their ...
Breaking Medicine Technology:TechAtlas Group Releases Innovative Chronic Kidney Disease Landscape Map 2Puerto Rico's Caribbean Imaging and Radiation Therapy Center Orders Elekta's New Versa HD System for Treatment of Cancer Patients 2PENTAX Medical And Hitachi-Aloka Medical Continue Joint Innovation And Global Leadership In Endoscopic Ultrasound Systems 2PENTAX Medical And Hitachi-Aloka Medical Continue Joint Innovation And Global Leadership In Endoscopic Ultrasound Systems 3
... StealthMerge Image Registration Software, you ... of image sets. Using advanced ... Medtronic SNT exclusively for the ... sets from a variety of ...
Designed for use during surgical procedures under fluoroscopy. A very practical unit, the frames superior design eliminates problems associated with imaging....
High temp cauteries, fine tip micro....
6 mm, 45 degree upwards, detachable....
Medicine Products: