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.

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 July 31, 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 July 31, 2014).

Share This




More Health & Medicine News

Thursday, July 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Health Insurers' Profits Slide

Health Insurers' Profits Slide

Reuters - Business Video Online (July 30, 2014) — Obamacare-related costs were said to be behind the profit plunge at Wellpoint and Humana, but Wellpoint sees the new exchanges boosting its earnings for the full year. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
Concern Grows Over Worsening Ebola Crisis

Concern Grows Over Worsening Ebola Crisis

AFP (July 30, 2014) — Pan-African airline ASKY has suspended all flights to and from the capitals of Liberia and Sierra Leone amid the worsening Ebola health crisis, which has so far caused 672 deaths in Guinea, Liberia and Sierra Leone. Duration: 00:43 Video provided by AFP
Powered by NewsLook.com
At Least 20 Chikungunya Cases in New Jersey

At Least 20 Chikungunya Cases in New Jersey

AP (July 30, 2014) — At least 20 New Jersey residents have tested positive for chikungunya, a mosquito-borne virus that has spread through the Caribbean. (July 30) Video provided by AP
Powered by NewsLook.com
Xtreme Eating: Your Daily Caloric Intake All On One Plate

Xtreme Eating: Your Daily Caloric Intake All On One Plate

Newsy (July 30, 2014) — The Center for Science in the Public Interest released its 2014 list of single meals with whopping calorie counts. Video provided by Newsy
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:
from the past week

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