Featured Research

from universities, journals, and other organizations

Genetic mutation inherited from father's side linked to early puberty

Date:
June 5, 2013
Source:
Brigham and Women's Hospital
Summary:
Researchers have identified that a genetic mutation leads to a type of premature puberty, known as central precocious puberty.

Reaching puberty at an unusually early age can have adverse effects on social behavior and psychological development, as well as physical effects, including short stature, and lifelong health risks, such as diabetes, breast cancer and heart disease. Researchers at Brigham and Women's Hospital (BWH), in a multi-institutional collaboration with Boston Children's Hospital, the Broad Institute, and the University of Sao Paulo, Brazil, have identified that a genetic mutation leads to a type of premature puberty, known as central precocious puberty. Central precocious puberty is defined by the development of secondary sexual characteristics before eight years in girls and nine years in boys.

Related Articles


The study appears online June 5, 2013 in The New England Journal of Medicine. The results will also be presented at The Endocrine Society's 95th Annual Meeting & Expo in San Francisco on June 17, 2013.

"These findings will open the door for a new understanding of what controls the timing of puberty," said Ursula Kaiser, MD, chief of the BWH Division of Endocrinology, Diabetes and Hypertension, co-senior study author. "It also will allow doctors to diagnose the cause of precocious puberty in a subset of patients, or to identify patients at risk for developing precocious puberty, especially if others in their family are affected. By better understanding the role of this gene in the timing of puberty, we may be able to gain insights into how other factors, such as environmental factors, may influence pubertal timing."

The researchers performed whole exome sequencing analysis of forty individuals from fifteen families with central precocious puberty. In five of the fifteen families, the researchers identified four mutations in the MKRN3 gene. The MKRN3 gene is responsible for coding a protein called makorin ring finger protein 3, which is thought to help tag other proteins for degradation. The genetic mutations resulted in truncated MKRN3 proteins and disruption of MKRN3 protein function. A mutation in the MKRN3 gene can lead to premature activation of reproductive hormones in the body, thereby initiating early puberty.

The researchers also found that all affected individuals inherited the mutations from their fathers. Moreover, the MKRN3 gene is located on the same chromosome as genes for Prader-Willi syndrome, a rare condition that results in short stature, incomplete sexual development, cognitive disabilities, insatiable appetite and severe obesity, among other abnormalities; although, despite being on the same chromosome, MKRN3 is not thought to contribute to the clinical features of Prader-Willi syndrome.


Story Source:

The above story is based on materials provided by Brigham and Women's Hospital. Note: Materials may be edited for content and length.


Journal Reference:

  1. Ana Paula Abreu, Andrew Dauber, Delanie B. Macedo, Sekoni D. Noel, Vinicius N. Brito, John C. Gill, Priscilla Cukier, Iain R. Thompson, Victor M. Navarro, Priscila C. Gagliardi, Tβnia Rodrigues, Cristiane Kochi, Carlos Alberto Longui, Dominique Beckers, Francis de Zegher, Luciana R. Montenegro, Berenice B. Mendonca, Rona S. Carroll, Joel N. Hirschhorn, Ana Claudia Latronico, Ursula B. Kaiser. Central Precocious Puberty Caused by Mutations in the Imprinted GeneMKRN3. New England Journal of Medicine, 2013; 130605140036002 DOI: 10.1056/NEJMoa1302160

Cite This Page:

Brigham and Women's Hospital. "Genetic mutation inherited from father's side linked to early puberty." ScienceDaily. ScienceDaily, 5 June 2013. <www.sciencedaily.com/releases/2013/06/130605190546.htm>.
Brigham and Women's Hospital. (2013, June 5). Genetic mutation inherited from father's side linked to early puberty. ScienceDaily. Retrieved November 21, 2014 from www.sciencedaily.com/releases/2013/06/130605190546.htm
Brigham and Women's Hospital. "Genetic mutation inherited from father's side linked to early puberty." ScienceDaily. www.sciencedaily.com/releases/2013/06/130605190546.htm (accessed November 21, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, November 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

WFP: Ebola Risks Heightened Among Women Throughout Africa

WFP: Ebola Risks Heightened Among Women Throughout Africa

AFP (Nov. 21, 2014) — Having children has always been a frightening prospect in Sierra Leone, the world's most dangerous place to give birth, but Ebola has presented an alarming new threat for expectant mothers. Duration: 00:37 Video provided by AFP
Powered by NewsLook.com
Could Your Genes Be The Reason You're Single?

Could Your Genes Be The Reason You're Single?

Newsy (Nov. 21, 2014) — Researchers in Beijing discovered a gene called 5-HTA1, and carriers are reportedly 20 percent more likely to be single. Video provided by Newsy
Powered by NewsLook.com
Milestone Birthdays Can Bring Existential Crisis, Study Says

Milestone Birthdays Can Bring Existential Crisis, Study Says

Newsy (Nov. 21, 2014) — Researchers find that as people approach new decades in their lives they make bigger life decisions. Video provided by Newsy
Powered by NewsLook.com
Ebola: Life Without School in Guinea

Ebola: Life Without School in Guinea

AFP (Nov. 21, 2014) — Following the closure of schools and universities in Guinea because of the Ebola virus, students look for temporary work or gather in makeshift classrooms to catch up on their syllabus. Duration: 02:14 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins