Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Chromosomal break gives scientists a break in finding new puberty gene

01.10.2010
A break in the two chromosomes has given scientists a break in finding a new gene involved in puberty, Medical College of Georgia researchers report.

It's also helped clear up why some patients with delayed puberty have no sense of smell, said Dr. Lawrence C. Layman, chief of the MCG Section of Reproductive Endocrinology, Infertility and Genetics.

The WRD11 gene interacts with a transcription factor that appears to be involved in development of gonadotropin releasing hormones that enable sexual maturation as well as olfactory neurons in the brain, according to a study published in The American Journal of Human Genetics and funded by the National Institutes of Health. A genetic mutation can diminish or eliminate this important interaction, impairing puberty and the sense of smell.

This was first found in a patient with Kallmann syndrome – delayed puberty coupled with the inability to smell. Next, a variety of WRD11mutations were identified in five other patients with delayed puberty, some of whom also had no sense of smell.

The findings provide insight into normal puberty as well as rare situations in which children don't sexually mature. "Even something that causes a rare disease can have an extremely important function in normal physiology," Layman said. A longer-term goal is finding better therapies for delayed puberty and perhaps alternative birth control methods.

Girls normally develop breasts by age 13 and menstruate by 15. Boys' testicles generally develop by age 14. Sex hormones can be prescribed to prompt puberty when it is delayed but more complex and expensive therapy is required to enable fertility. The therapy can lead to multiple births and related problems such as prematurity.

Layman, who receives blood samples of children and young adults with delayed puberty from across the globe, said the misplacement of portions of two chromosomes in the Kallmann patient worked like a global positioning system to help narrow down the gene search.

The patient had pieces of chromosome 10 on chromosome 12 and vice versa; such recombinations are fairly common and not necessarily bad. But knowing that a recombination can disrupt a gene's function, the researchers analyzed a handful of genes in the immediate vicinity of the break before finding WRD11.

They still have to determine whether the chromosomal swapping had anything to do with the gene dysfunction in this case but the five other patients who had WRD11 mutations did not have the translocation. "Either way, it helped point us in the right direction," said Layman, a corresponding author on the study along with lead author Dr. Hyung-Goo Kim, molecular geneticist in Layman's lab.

"Performing genetic analysis in rare individuals harboring balanced chromosomal locations opens an important portal in the hunt for disease genes," noted Kim, who established the Developmental Gene Discovery Project at MCG to identify genes involved in a wide variety of human genetic disorders.

Layman recently received a $1.5 million grant from the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development to learn more about how several of these puberty genes work.

The scientists will be looking further at WRD11, but also CHD7, a gene Kim and Layman identified in 2008, as well as the NELF gene, for fundamentals such as function and frequency. They will also look at more patients and their families to see if they have the same or different genetic variations.

"We have to know, for example, if they are transcription factors, which we think both CHD7 and NELF are. This means that they go into the cell nucleus and turn on expression of other genes," Layman said. "We also have to know what they bind to. It may be that some of these genes work in the same pathway."

Counting WRD11, there are now at least 17 known puberty genes and evidence suggests multiple genetic mutations are involved in some patients. Layman suspects that plenty of those genes are still unknown.

Toni Baker | EurekAlert!
Further information:
http://www.mcg.edu

More articles from Life Sciences:

nachricht What the world's tiniest 'monster truck' reveals
23.08.2017 | American Chemical Society

nachricht Treating arthritis with algae
23.08.2017 | Empa - Eidgenössische Materialprüfungs- und Forschungsanstalt

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

What the world's tiniest 'monster truck' reveals

23.08.2017 | Life Sciences

Treating arthritis with algae

23.08.2017 | Life Sciences

Witnessing turbulent motion in the atmosphere of a distant star

23.08.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>