HOME >> BIOLOGY >> NEWS
Hopkins Children's Center researchers find cause for common kind of dwarfism

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.

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.


'"/>

Contact: David Bricker
dbricker@jhmi.edu
410-223-1728
Johns Hopkins Medical Institutions
10-Jan-2001


Page: 1

Related biology news :

1. Hopkins scientists use blood proteins to detect ovarian cancer
2. Hopkins to found first center for comprehensive study of epigenetics
3. Hopkins scientists overcome main obstacle to making tons of short, drug-like proteins
4. Hopkins Marine Station honored by the American Society for Microbiology
5. Johns Hopkins gene hunters pinpoint new cancer gene target
6. Hopkins researchers identify transplantation antigens among Sioux Indians
7. Hopkins researchers discover how nitric oxide prevents blood vessel inflammation
8. Hopkins is first US institution to obtain powerful genotyping system
9. Dr. Robot tested at Hopkins
10. From Hopkins: Children may outgrow peanut allergies
11. OXiGENE announces launch of ophthalmic clinical trial at The Johns Hopkins School of Medicine

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:7/10/2020)... Va. (PRWEB) , ... July 08, 2020 , ... ... Latest on Cell and Gene Therapy Regulation, An FDAnews Webinar, Wednesday, July 22, ... need a comparability study, but what is the most effective way to complete ...
(Date:7/2/2020)... ... July 02, 2020 , ... Dutch ... the use of its revolutionary NEXTGENPCR endpoint thermocycler to test for SARS-CoV-2 ... The article, titled "Ultra-fast one-step RT-PCR protocol for the detection of SARS-CoV-2," ...
(Date:6/28/2020)... JUPITER, Fla. (PRWEB) , ... June 25, 2020 , ... ... will focus on innovations in accelerated Point of Care Testing solutions (POCT). Check local ... labs. Samples are collected at medical offices and are shipped to labs throughout the ...
Breaking Biology News(10 mins):
(Date:7/18/2020)... (PRWEB) , ... July 16, 2020 , ... After research ... The completion of a great surgery is only the beginning of a successful study, ... research community. , Join Brad Gien, Global Head of Surgery from Envigo ...
(Date:7/18/2020)... ... 16, 2020 , ... Medial EarlySign , a leader ... of high-burden diseases, and Centric Consulting, a business and technology consulting firm, today ... data in order to identify and prioritize patients for care. , Combining Centric’s ...
(Date:7/10/2020)... Va. (PRWEB) , ... July 08, 2020 , ... ... testing services and products, announces a significant expansion of laboratory operations through its ... collection for agencies implementing testing programs. , Bode-CARES provides a ...
(Date:7/10/2020)... ... July 09, 2020 , ... In most research using ... suppress pigment formation in zebrafish embryos, maintaining optical transparency to facilitate microscopic imaging. ... has been using the zebrafish model to investigate the causes of leukaemia and ...
Breaking Biology Technology:
Cached News: