Navigation Links
Not only the gene itself, its abnormal regulation can also trigger short stature
Date:8/25/2009

tients reach a height up to 20 cm less than expected. Up to about 15 cm can be regained if the disease is diagnosed early enough and treated with growth hormones. The SHOX gene is involved in various other syndromes with growth disorders (Lri-Weill, Langer, Ullrich-Turner syndrome).

Genetic material from 893 persons with short stature examined

The researchers' latest studies show that not only the gene itself, but its regulators as well can be crucial for developing the disease. Regulatory sequences ensure that the respective gene is copied more or less frequently and thus is more or less effective.

The researchers in Heidelberg examined the genetic material from a total of 893 subjects. About 5 percent of the patients with idiopathic short stature and 80 percent of the patients with Lri-Weill syndrome had mutations in the segment either including or around the SHOX gene. Some patients had an intact SHOX gene but an unexpectedly high number of mutations in its enhancer sequences: for 26 percent of patients with SHOX deficiency and idiopathic short stature and for 45 percent of patients with SHOX deficiency and Lri-Weill syndrome, the disease could be attributed solely to a genetic mutation of the enhancer sequence. "The astounding thing is that this enhancer mutation is quite far away from the affected gene and yet it still leads to the exact same clinical symptoms as a mutation in the gene itself," says Professor Rappold.

Treatment with growth hormones

Genes that are responsible for growth and development are needed more or less frequently in different phases of growth. In these genes in particular, mutations in the regulatory sequences can be the decisive factor for illness. The researchers hope that their results will give them a better understanding of the causes of the disease and allow them to optimize the diagnostic possibilities for patients with SHOX gene mutations.

"Patients who suffer
'/>"/>

Contact: Professor Gudrun A. Rappold Ph.D.
gudrun_rappold@med.uni-heidelberg.de
062-215-65059
University Hospital Heidelberg
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. Seizures, Not Epilepsy Itself, May Raise Birth Risks
2. Abnormal Protein May Signal Pancreatic Cancer
3. Researchers find alcoholics display abnormal brain activity when processing facial expressions
4. Abnormal Brain Circuits May Prevent Movement Disorder
5. Chromosome Abnormality Tied to Autistic Behavior in Mice
6. Patients Often Not Told About Abnormal Test Results
7. Women with previous abnormal cervical cells at higher risk for recurrence and invasive cancer
8. Injured Marines at Risk for Abnormal Bone Growth
9. Injured Marines at risk for abnormal bone growth
10. Abnormal Heartbeat After Bypass a Bad Sign
11. New MR sequence helps radiologists more accurately evaluate abnormalities of the uterus and ovaries
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/30/2014)... By Alan Mozes ... 2014 (HealthDay News) -- Colon cancer patients who are ... slightly higher risk for developing a second weight-related cancer, ... to the risk of colon cancer recurrence, only the ... , "We found that colorectal cancer survivors who reported ...
(Date:9/30/2014)... leading cause of cancer death in women, according to ... professionals encourage women to get mammograms, even though the ... suspicious mammograms actually leads to a cancer diagnosis. , ... and their familiesnot to mention the time, discomfort and ... , Recently, a different type of test, ultrasound elastography, ...
(Date:9/30/2014)... September 30, 2014 Keystone Symposia will convene ... first in its 2014-15 Global Health Series on ... Sheraton Seattle Hotel immediately following the conclusion of ... four-day conference is part of the Keystone Symposia Global ... Foundation, which has also funded travel awards for 36 ...
(Date:9/30/2014)... 30, 2014 A new study ... studied the impact of stress on metabolism after eating a ... fries from a fast food restaurant, about 930 calories and ... for 20 minutes every hour for 7 hours, conducting the ... women who had experienced a stressful event in their lives ...
(Date:9/30/2014)... Integrated Medicine Alliance , Monmouth ... new medical specialty practice through a unique partnership with ... be located within the company’s Shrewsbury location and will ... Tawfik of American Heart Center, P.C., a highly regarded ... offer Integrated Medicine Alliance patients top notch cardiovascular care ...
Breaking Medicine News(10 mins):Health News:Obesity Tied to Higher Cancer Risk for Colon Cancer Survivors 2Health News:Obesity Tied to Higher Cancer Risk for Colon Cancer Survivors 3Health News:'Virtual breast' could improve cancer detection 2Health News:Keystone Symposia launches 2014-2015 meeting series with Global Health Vaccines Conference 2Health News:NutriGold Urges Every Woman To Read a Recent Study About Diet and Stress 2Health News:NutriGold Urges Every Woman To Read a Recent Study About Diet and Stress 3Health News:Integrated Medicine Alliance Announces New Cardiology Practice 2
... This year, Baylor Health,Care System ranked 15th on ... that tracks information technology providers across,the country. No ... "Since innovation is one the Baylor Health Care ... recognize us for living our values,",says David Muntz, ...
... OF FEMALE WINEMAKERS AND FINE CUISINE IN ... CHARITIES, Robin Leach to host the event and Sopranos star and winemaker Lorraine ... Bracco to showcase Bracco Wines Michael Schulson star of Style ... restaurants go ...
... 18 Four Rivers Software Systems, Inc.,the ... the healthcare industry, combines departments under Samantha ... In her most recent position as ... directed the implementation and services division. Now,as ...
... Kicks Off Sector-Wide Initiative, OAKLAND, Calif., Oct. ... and environmentally responsible purchasing, has partnered,with a group ... green,practices across the industry. As a founding ... Kaiser,Permanente aims to share best practices and help ...
... Diabetes Alliance --, WESTPORT, Conn., Oct. 18 ... Day Diabetes Alliance with dLife, the only,integrated multimedia education ... an estimated 20.8 million(1) people in the United States,currently ... those,undiagnosed. The goal of the 360 degrees/365 Program is ...
... YORK, Oct. 18 The Jericho Project, a ... announced its,plan to launch a supportive housing program ... nearly 25-year experience in enabling,homeless individuals to become ... will feature a specially-built residence offering,housing and holistic ...
Cached Medicine News:Health News:Baylor Health Care System Receives National Information Technology Recognition 2Health News:Borgata Heart & Soul Foundation Presents Third Annual Women in Wine Event 2Health News:Borgata Heart & Soul Foundation Presents Third Annual Women in Wine Event 3Health News:Borgata Heart & Soul Foundation Presents Third Annual Women in Wine Event 4Health News:Four Rivers Software Systems, Inc. Announces the Promotion of Samantha Rouse to Senior Vice President of Product and Services 2Health News:Kaiser Permanente Joins With Top Health Care Groups to Create Healthier Hospital Environments 2Health News:Kaiser Permanente Joins With Top Health Care Groups to Create Healthier Hospital Environments 3Health News:Rite Aid and dLife Partner to Educate and Support Diabetes Community 2Health News:Rite Aid and dLife Partner to Educate and Support Diabetes Community 3Health News:The Jericho Project Announces Rehabilitation Residence for Homeless and Low-Income Veterans 2
(Date:9/30/2014)... LOS ANGELES , Sept. 30, 2014   ... apnea shopping destination , today announced that it now ... ResMed . AirSense CPAPs are the first sleep apnea ... makes it simple and easy to track and share ... the overall effectiveness of their CPAP therapy.  In addition, ...
(Date:9/30/2014)... BRUNSWICK, N.J., Sept. 30, 2014 The ... Kessler Foundation and New Jersey Health Foundation (NJHF) ... and patient care programs has been announced by ... officer of Kessler Foundation and James M. ... "The experience of New Jersey Health ...
(Date:9/30/2014)... -- The Eastern European medical device industry is in ... as new medical-device manufacturers are constantly trying to penetrate ... to reduce the cost incurred for placing their products ... effective means to achieve this target. This research service ... and provides profiles of key distributors in ...
Breaking Medicine Technology:Easy Breathe Now Offers World's First "Smart" CPAP Device to Treat Sleep Apnea 2Easy Breathe Now Offers World's First "Smart" CPAP Device to Treat Sleep Apnea 3Easy Breathe Now Offers World's First "Smart" CPAP Device to Treat Sleep Apnea 4Kessler Foundation Partners with New Jersey Health Foundation To Start Innovative Companies To Change the Lives of People with Disabilities 2Medical Technologies Distributor Profiles in Eastern Europe 2Medical Technologies Distributor Profiles in Eastern Europe 3
... DIEGO, Aug. 28 Vical Incorporated,(Nasdaq: VICL ... subject in its,Phase 1 trial of the company,s ... placebo-controlled trial will,evaluate safety, tolerability and immune responses ... 45 at two U.S. clinical sites. "We ...
... such ... infectious-disease outbreaks, SEATTLE, Aug. 28 In ... Fred,Hutchinson Cancer Research Center confirm that the avian influenza A ... within a family in,Indonesia. The findings, by biostatistician Ira M. ...
Cached Medicine Technology:Vical Begins Phase 1 Trial of DNA Vaccine Against H5N1 Pandemic Influenza 2Vical Begins Phase 1 Trial of DNA Vaccine Against H5N1 Pandemic Influenza 3Vical Begins Phase 1 Trial of DNA Vaccine Against H5N1 Pandemic Influenza 4Study Confirms Limited Human-To-Human Spread of Avian-Flu Virus in Indonesia in 2006 2Study Confirms Limited Human-To-Human Spread of Avian-Flu Virus in Indonesia in 2006 3Study Confirms Limited Human-To-Human Spread of Avian-Flu Virus in Indonesia in 2006 4
... a national reference laboratory and a worldwide ... ARUP offers an extensive test menu of ... clinical and anatomic pathology. Owned by the ... more than half of the nation's university ...
... a national reference laboratory and a worldwide ... ARUP offers an extensive test menu of ... clinical and anatomic pathology. Owned by the ... more than half of the nation's university ...
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
... a national reference laboratory and a worldwide ... ARUP offers an extensive test menu of ... clinical and anatomic pathology. Owned by the ... more than half of the nation's university ...
Medicine Products: