Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New study identifies gene signaling puberty

23.10.2003


NIH-funded researchers have identified a gene that appears to be a crucial signal for the beginning of puberty in human beings as well as in mice. Without a functioning copy of the gene, both humans and mice appear to be unable to enter puberty normally. The newly identified gene, known as GPR54, also appears necessary for normal reproductive functioning in human beings.



The study, funded in part by the National Institute of Child Health and Human Development (NICHD), appears in the October 23 issue of the New England Journal of Medicine. GPR54 is located on an autosomal chromosome (a chromosome that is not a sex chromosome). The study also was funded by the National Center for Research Resources and the National Institute of General Medical Sciences, both at NIH.

"The discovery of GPR54 is an important step in understanding the elaborate sequence of events needed for normal sexual maturation," said Duane Alexander, M.D., Director of the National Institute of Child Health and Human Development (NICHD). "Findings from this study may lead not only to more effective treatments for individuals who fail to enter puberty normally, but may provide insight into the causes of other reproductive disorders as well."


Puberty begins when a substance known as gonadotropin releasing hormone (GnRH) is secreted from a part of the brain called the hypothalamus. Individuals who fail to reach puberty because of inherited or spontaneous genetic mutations are infertile.

"The discovery of GPR54 as a gatekeeper for puberty across species is very exciting" said the study’s first author, Stephanie B. Seminara, of the Reproductive Endocrine Unit, Massachusetts General Hospital, Boston and a member of the NICHD-funded, Harvard-wide Endocrine Sciences Center. "In the future, this work might lead to new therapies for the treatment of a variety of reproductive disorders."

The GPR54 gene contains the information needed to make a receptor. Receptors and the molecules that bind to them are analogous to a lock and a key mechanism. Like a key fits into a lock, certain molecules bind to their receptors, which usually sit atop a cell’s surface. Once the binding takes place, the cell either will begin a new biochemical activity, or halt an ongoing activity. The researchers think that the molecule metastatin binds to the GPR54 receptor. As of yet, they do not know what precise effect the molecule may have on cells.

The researchers sought to learn which genes are involved in triggering the brain’s release of GnRH at puberty. Two teams of researchers working independently of each other were involved in the discovery. One consisted of U.S. based researchers, the other, of British researchers.

The U.S. team included Scientists from Massachusetts General Hospital, Brigham and Women’s Hospital, and Harvard Medical School who collaborated with a researcher at Kuwait University. The British team included researchers from the University of Cambridge and Paradigm Therapeutics Ltd. in Cambridge. The U.S. researchers isolated the gene from members of a Saudi Arabian family that suffered from idiopathic hypogonadotropic hypogonadism (IHH), a rare inherited disease in which sexual development is incomplete or does not occur because of insufficient release of GnRH from the hypothalamus. If untreated, individuals with this disorder fail to develop sexually.

By analyzing genetic material from men and women with IHH using tools from the NIH-sponsored Human Genome Project, the U.S. researchers first discovered that a certain region of chromosome 19 carried the mutant gene responsible for IHH. The researchers then identified GPR54 as the possible gene.

Working independently of the U.S. and Kuwaiti researchers, the British researchers created mice lacking GPR54. The mice without GPR54 also failed to reach puberty. The study authors found, however, that the brains of the mice contained normal levels of GnRH. The researchers do not yet know why the animals were unable to enter puberty, despite producing normal amounts of the hormone.

The findings from the two research teams complement each other, explained NICHD project officer Louis De Paolo, Ph.D, of NICHD’s Reproductive Sciences Branch.

"Through some careful detective work, the U.S. researchers pinpointed the gene that causes IHH in this family," said Louis De Paolo, Ph.D., project officer in NICHD’s Reproductive Sciences Branch. "Using the mouse model, the British researchers gained an important insight into the function of the gene."


The NICHD is part of the National Institutes of Health (NIH), the biomedical research arm of the federal government. NIH is an agency of the U.S. Department of Health and Human Services. The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. NICHD publications, as well as information about the Institute, are available from the NICHD Web site, http://www.nichd.nih.gov, or from the NICHD Information Resource Center, 1-800-370-2943; e-mail NICHDClearinghouse@mail.nih.gov.

Bob Bock | EurekAlert!
Further information:
http://www.nichd.nih.gov

More articles from Life Sciences:

nachricht Cryo-electron microscopy achieves unprecedented resolution using new computational methods
24.03.2017 | DOE/Lawrence Berkeley National Laboratory

nachricht How cheetahs stay fit and healthy
24.03.2017 | Forschungsverbund Berlin e.V.

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Giant Magnetic Fields in the Universe

Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.

The results will be published on March 22 in the journal „Astronomy & Astrophysics“.

Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...

Im Focus: Tracing down linear ubiquitination

Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.

Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...

Im Focus: Perovskite edges can be tuned for optoelectronic performance

Layered 2D material improves efficiency for solar cells and LEDs

In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...

Im Focus: Polymer-coated silicon nanosheets as alternative to graphene: A perfect team for nanoelectronics

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...

Im Focus: Researchers Imitate Molecular Crowding in Cells

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to simulate these confined natural conditions in artificial vesicles for the first time. As reported in the academic journal Small, the results are offering better insight into the development of nanoreactors and artificial organelles.

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

International Land Use Symposium ILUS 2017: Call for Abstracts and Registration open

20.03.2017 | Event News

CONNECT 2017: International congress on connective tissue

14.03.2017 | Event News

ICTM Conference: Turbine Construction between Big Data and Additive Manufacturing

07.03.2017 | Event News

 
Latest News

Argon is not the 'dope' for metallic hydrogen

24.03.2017 | Materials Sciences

Astronomers find unexpected, dust-obscured star formation in distant galaxy

24.03.2017 | Physics and Astronomy

Gravitational wave kicks monster black hole out of galactic core

24.03.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>