Navigation Links
Scientists identify new gene responsible for puberty disorders
Date:10/27/2008

AUGUSTA, Ga. 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."


'/>"/>

Contact: Jennifer Hilliard
jhilliard@mcg.edu
706-721-8604
Medical College of Georgia
Source:Eurekalert  

Related medicine news :

1. Gladstone scientists identify role of fatty acids in Alzheimers disease
2. Scientists Hot on Trail of New Antibiotics
3. Scientists close in on method to fight deadly childhood cancer
4. NIH scientists discover crucial control in long-lasting immunity
5. New Site Launched for Families and Scientists to Discuss Stem Cell Research (US)
6. 2 UCSF scientists recognized for transformative research
7. Scientists take cancer research back to the basic molecular level
8. Rice political scientists co-author report on ethnic/racial aspects of Taser use by Houston police
9. Scientists produce nanoscale droplets with cancer-fighting implications
10. Scientists find second site for prostate cancer gene
11. Scientists Track Hourly Changes in Alzheimers Protein
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Scientists identify new gene responsible for puberty disorders
(Date:10/13/2017)... ... ... Global Healthcare Management’s 4th Annual Kids Fun Run brought out many kids ... sponsored by Global Healthcare Management’s CEO, Jon Letko, is aimed at getting kids excited ... all ages; it is a non-competitive, non-timed event, which is all about having fun ...
(Date:10/13/2017)... ... ... Journey: From the Mountains to the Mission Field”: the story of a missionary couple ... From the Mountains to the Mission Field” is the creation of published author, Carole ... and currently teaches a class of ladies at her church, which she has taught ...
(Date:10/12/2017)... LA (PRWEB) , ... October 12, 2017 , ... Planet ... in the U.S., announced today its plans to open a flagship location in Covington, ... occupy the former Rooms To Go store next to Office Depot in the Holiday ...
(Date:10/12/2017)... ... October 12, 2017 , ... Asante, ... post-acute health care, have expanded their existing home health joint venture through an ... has been operating a joint venture home health company with Asante, delivering clinically ...
(Date:10/12/2017)... ... October 12, 2017 , ... Leading pediatric oncology experts at ... D.C., for the 49th Congress of the International Society of Paediatric Oncology ... the Center for Cancer and Blood Disorders at Children’s National, and Stephen ...
Breaking Medicine News(10 mins):
(Date:10/2/2017)... Oct. 2, 2017  Eli Lilly and Company (NYSE: ... for the third quarter of 2017 on Tuesday, October ... on that day with the investment community and media ... The conference call will begin at 9 a.m. Eastern ... a live webcast of the conference call through a ...
(Date:9/28/2017)... 28, 2017 Cohen Veterans Bioscience and Early ... of wearable and home sensors for real-time monitoring of ... Foundation, a nonprofit organization focused on disruptive health solutions ... affordable analytical system to record and integrate behavioral, cognitive, ... ...
(Date:9/23/2017)... Sept. 22, 2017 Janssen Biotech, Inc. (Janssen) ... letter from the U.S. Food and Drug Administration (FDA) ... sirukumab for the treatment of moderately to severely active ... clinical data are needed to further evaluate the safety ... active RA. ...
Breaking Medicine Technology: