Featured Research

from universities, journals, and other organizations

Hopkins Children's Center Researchers Find Cause For Common Kind Of Dwarfism

Date:
January 11, 2001
Source:
Johns Hopkins Medical Institutions
Summary:
A common type of dwarfism may not be principally caused by a defect in the human growth hormone gene, as previously thought, but rather by a gene that controls the hormone's release into the bloodstream, according to scientists at the Johns Hopkins Children's Center and School of Medicine.

A common type of dwarfism may not be principally caused by a defect in the human growth hormone gene, as previously thought, but rather by a gene that controls the hormone's release into the bloodstream, according to scientists at the Johns Hopkins Children's Center and School of Medicine. Their study is reported in this month's issue of the Journal of Clinical Endocrinology & Metabolism.

Related Articles


Endocrinologists Roberto Salvatori, M.D., and Michael Levine, M.D., studied families in which at least two children had isolated growth hormone deficiency (IGHD) type 1-B, the most common type of growth hormone-deficient dwarfism. These individuals have low but detectable levels of growth hormone (GH) in their blood. The researchers found a faulty releasing hormone receptor gene in three of the families. This gene holds the blueprint for a receptor protein that binds to releasing hormone, thereby instructing cells to produce and release GH into the bloodstream. Each of the three children studied carried a different, previously unidentified mutation in the releasing hormone receptor gene.

"We are learning that many different mutations in the releasing hormone receptor exist out there," says Salvatori, the report's lead author. "Our work suggests also that this kind of dwarfism is not necessarily caused by a defect in the gene that governs the production of human growth hormone."

Using DNA from white blood cells, the Hopkins team sequenced the releasing hormone receptor gene. Of the three releasing hormone receptor mutations they found, all involved the substitution of a single amino acid for another, possibly causing a change in the shape -- and function -- of the entire receptor.

The new findings should also help doctors more easily diagnose the cause of hormone deficiency in children.

Researchers from the Vanderbilt University Department of Pediatrics in Nashville, Tenn., the Hospital Universitario Virgen de las Nieves, the Department of Pediatric Endocrinology in Granada, Spain, and the King Faisal Specialist Hospital Department of Pediatrics in Riyadh, Saudi Arabia, also contributed to the report. It was funded by grants from the National Institutes of Health and the Genentech Foundation for Growth and Development.


Story Source:

The above story is based on materials provided by Johns Hopkins Medical Institutions. Note: Materials may be edited for content and length.


Cite This Page:

Johns Hopkins Medical Institutions. "Hopkins Children's Center Researchers Find Cause For Common Kind Of Dwarfism." ScienceDaily. ScienceDaily, 11 January 2001. <www.sciencedaily.com/releases/2001/01/010111075052.htm>.
Johns Hopkins Medical Institutions. (2001, January 11). Hopkins Children's Center Researchers Find Cause For Common Kind Of Dwarfism. ScienceDaily. Retrieved November 29, 2014 from www.sciencedaily.com/releases/2001/01/010111075052.htm
Johns Hopkins Medical Institutions. "Hopkins Children's Center Researchers Find Cause For Common Kind Of Dwarfism." ScienceDaily. www.sciencedaily.com/releases/2001/01/010111075052.htm (accessed November 29, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, November 29, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Rural India's Low-Cost Sanitary Pad Revolution

Rural India's Low-Cost Sanitary Pad Revolution

AFP (Nov. 28, 2014) — One man hopes his invention -– a machine that produces cheap sanitary pads –- will help empower Indian women. Duration: 01:51 Video provided by AFP
Powered by NewsLook.com
Research on Bats Could Help Develop Drugs Against Ebola

Research on Bats Could Help Develop Drugs Against Ebola

AFP (Nov. 28, 2014) — In Africa's only biosafety level 4 laboratory, scientists have been carrying out experiments on bats to understand how virus like Ebola are being transmitted, and how some of them resist to it. Duration: 01:18 Video provided by AFP
Powered by NewsLook.com
WHO Says Male Ebola Survivors Should Abstain From Sex

WHO Says Male Ebola Survivors Should Abstain From Sex

Newsy (Nov. 28, 2014) — WHO cites four studies that say Ebola can still be detected in semen up to 82 days after the onset of symptoms. Video provided by Newsy
Powered by NewsLook.com
Ebola Leaves Orphans Alone in Sierra Leone

Ebola Leaves Orphans Alone in Sierra Leone

AFP (Nov. 27, 2014) — The Ebola epidemic sweeping Sierra Leone is having a profound effect on the country's children, many of whom have been left without any family members to support them. Duration: 01:02 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins