Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Scientists identify new gene responsible for puberty disorders

29.10.2008
A new gene responsible for some puberty disorders has been identified by Medical College of Georgia researchers.

They found that the gene mutated in CHARGE syndrome – a multi-system disorder characterized by diverse problems from heart defects to hearing loss to cleft lip and palate and mental retardation – also accounts for about 6 percent of two puberty disorders.

These disorders – idiopathic hypogonadotropic hypogonadism, or IHH, and Kallmann syndrome – short circuit puberty and can cause infertility. Kallmann syndrome is also marked by patients’ inability to smell.

Dr. Lawrence Layman, chief of the MCG Section of Reproductive Endocrinology, Infertility and Genetics in the School of Medicine, and colleagues published an article in the October issue of The American Journal of Human Genetics linking the diseases.

CHARGE syndrome can also impair the sense of smell and inhibit production of sex steroids and hormones, so researchers suspected a common gene.

“Thinking that IHH and Kallmann syndrome could represent a milder version of CHARGE Syndrome, we set out to study the gene in a large sample of patients diagnosed with delayed puberty but not CHARGE,” Dr. Layman says.

The identified gene is called chromodomain helicase DNA binding protein 7, or CHD7. In 101 people with IHH and Kallmann syndrome, researchers found seven mutations of CHD7 that weren’t present in nearly 200 healthy individuals.

“This suggests that they were mutations causing the disorder, and we also showed that most of these mutations impaired the gene’s function,” Dr. Layman says.

Typically, puberty begins around age 10 in boys and age 8 or 9 in girls. It starts when the hypothalamus in the brain releases more gonadotropin releasing hormone, or GnRH, which stimulates the pituitary gland to make puberty-related hormones. This prompts ovaries to produce estrogen and eggs and testes to produce testosterone and sperm.

Pubertal disorders, Dr. Layman says, often begin long before that chain of events begins.

He traces the defects to gestation, when neurons linked to reproduction and sense of smell fail to reach their destination together.

“While the discovery of additional genes involved in pubertal disorders is significant, we only know the cause for about one-third of all affected patients,” says Hyung-Goo Kim, molecular geneticist in the Institute of Molecular Medicine and Genetics and the study’s first author. “We know now that CHD7, only the second gene identified as a cause for IHH and Kallmann Syndrome, is a common culprit.”

“There is still work to be done,” says Dr. Layman, corresponding author. “But this work is important because it gives us cause for genetic counseling on patients with these mutations. And because these findings suggest that IHH and Kallmann Syndrome are mild variants of CHARGE, it also prompts us to look more carefully for heart problems, hearing loss and cleft lip/palate in patients with pubertal abnormalities.”

Jennifer Hilliard | EurekAlert!
Further information:
http://www.mcg.edu

More articles from Life Sciences:

nachricht New insight into a central biological dogma on ion transport
26.06.2017 | Aarhus University

nachricht UK chemistry researchers develop catalyst that mimics the z-scheme of photosynthesis
26.06.2017 | University of Kentucky

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Can we see monkeys from space? Emerging technologies to map biodiversity

An international team of scientists has proposed a new multi-disciplinary approach in which an array of new technologies will allow us to map biodiversity and the risks that wildlife is facing at the scale of whole landscapes. The findings are published in Nature Ecology and Evolution. This international research is led by the Kunming Institute of Zoology from China, University of East Anglia, University of Leicester and the Leibniz Institute for Zoo and Wildlife Research.

Using a combination of satellite and ground data, the team proposes that it is now possible to map biodiversity with an accuracy that has not been previously...

Im Focus: Climate satellite: Tracking methane with robust laser technology

Heatwaves in the Arctic, longer periods of vegetation in Europe, severe floods in West Africa – starting in 2021, scientists want to explore the emissions of the greenhouse gas methane with the German-French satellite MERLIN. This is made possible by a new robust laser system of the Fraunhofer Institute for Laser Technology ILT in Aachen, which achieves unprecedented measurement accuracy.

Methane is primarily the result of the decomposition of organic matter. The gas has a 25 times greater warming potential than carbon dioxide, but is not as...

Im Focus: How protons move through a fuel cell

Hydrogen is regarded as the energy source of the future: It is produced with solar power and can be used to generate heat and electricity in fuel cells. Empa researchers have now succeeded in decoding the movement of hydrogen ions in crystals – a key step towards more efficient energy conversion in the hydrogen industry of tomorrow.

As charge carriers, electrons and ions play the leading role in electrochemical energy storage devices and converters such as batteries and fuel cells. Proton...

Im Focus: A unique data centre for cosmological simulations

Scientists from the Excellence Cluster Universe at the Ludwig-Maximilians-Universität Munich have establised "Cosmowebportal", a unique data centre for cosmological simulations located at the Leibniz Supercomputing Centre (LRZ) of the Bavarian Academy of Sciences. The complete results of a series of large hydrodynamical cosmological simulations are available, with data volumes typically exceeding several hundred terabytes. Scientists worldwide can interactively explore these complex simulations via a web interface and directly access the results.

With current telescopes, scientists can observe our Universe’s galaxies and galaxy clusters and their distribution along an invisible cosmic web. From the...

Im Focus: Scientists develop molecular thermometer for contactless measurement using infrared light

Temperature measurements possible even on the smallest scale / Molecular ruby for use in material sciences, biology, and medicine

Chemists at Johannes Gutenberg University Mainz (JGU) in cooperation with researchers of the German Federal Institute for Materials Research and Testing (BAM)...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Plants are networkers

19.06.2017 | Event News

Digital Survival Training for Executives

13.06.2017 | Event News

Global Learning Council Summit 2017

13.06.2017 | Event News

 
Latest News

New 3-D model predicts best planting practices for farmers

26.06.2017 | Agricultural and Forestry Science

New research reveals impact of seismic surveys on zooplankton

26.06.2017 | Life Sciences

Correct connections are crucial

26.06.2017 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>