Featured Research

from universities, journals, and other organizations

Genetic cause found for premature ovarian failure

Date:
March 5, 2014
Source:
Spanish National Research Council (CSIC)
Summary:
A genetic cause for premature ovarian failure, a disorder affecting one percent of women that provokes the loss of ovarian function years before menopause, has been found by researchers. "Our work enables us to causally relate mutations in a gene of the cohesin complex with human infertility. It also demonstrates for the first time in humans that POF and azoospermia, a disorder that impedes normal sperm production, are probably the two faces of the same genetic disease," an author has noted.

The results, published in The New England Journal of Medicine and Human and Molecular Genetics journals, demonstrate for the first time that mutation in STAG3 gene is the major cause of human fertility disorders as it provokes a loss of function of the protein it encodes.

STAG3 encodes a meiosis-specific subunit of the cohesin ring, the biological process through which, from a diploid somatic cell, a haploid cell or gamete is produced. Cohesins are protein complexes that bind two straps of DNA and are implicated in its repair, replication and recombination, as well as in its chromosomal stability, transcription regulation, stem-cell pluripotency, and cell differentiation.

Alberto M. Pendás, CSIC researcher at the Cancer Research Center (USAL/CSIC), states: "Our work enables us to causally relate mutations in a gene of the cohesin complex with human infertility. It also demonstrates for the first time in humans that POF and azoospermia, a disorder that impedes normal sperm production, are probably the two faces of the same genetic disease."

Genetic study in a family

Researchers have identified, through the analysis of samples obtained from a consanguineous Middle Eastern family, a region on chromosome 7q21 that has significant linkage with POF. In collaboration with US and French researchers, they have performed the whole-exome sequencing, the fraction of the genome that encodes proteins, of the DNA provided by two sisters within this family, being one of them healthy and the other one sterile. Through the combination of linkage data and exome sequencing, they have identified a deletion or loss of a single base in the gene encoding STAG3, which results in a prematurely truncated protein without function.

CSIC researcher adds: "We have confirmed that mutation is found in both copies of the gene, one inherited from the father and the other one inherited from the mother, in the four women affected by the disease, causing an absolute absence of STAG3 protein and meiotic cohesin complex in these women. Likewise, all the unaffected members have at least one of the two copies of the non-mutated STAG3 gene, which further supports that this is responsible for the POF."

The proof that STAG3 mutation is the cause of the disease has been achieved by generating mutant mice of this gene. The analysis of female mice has revealed that, same as the affected women, the absence of STAG3 provokes the disease.

In previous studies, researchers proved in mice that genes of the meiotic cohesin complex produce various degrees of infertility in mice. Pendás explains: "Now, the analysis of this STAG3-deficient mouse has enabled us to corroborate that is a cause of female sterility and a very strong candidate for male infertility."


Story Source:

The above story is based on materials provided by Spanish National Research Council (CSIC). Note: Materials may be edited for content and length.


Journal Reference:

  1. Sandrine Caburet, Valerie A. Arboleda, , Elena Llano, Paul A. Overbeek, Jose Luis Barbero, Kazuhiro Oka, Wilbur Harrison, Daniel Vaiman, Ziva Ben-Neriah, Ignacio García-Tuñón, Marc Fellous, Alberto M. Pendas, Reiner A. Veitia, y Eric Vilain. Mutant Cohesin in Premature Ovarian Failure. The New England Journal of Medicine, March 2014 DOI: 10.1056/nejmBR1309635

Cite This Page:

Spanish National Research Council (CSIC). "Genetic cause found for premature ovarian failure." ScienceDaily. ScienceDaily, 5 March 2014. <www.sciencedaily.com/releases/2014/03/140305191511.htm>.
Spanish National Research Council (CSIC). (2014, March 5). Genetic cause found for premature ovarian failure. ScienceDaily. Retrieved July 22, 2014 from www.sciencedaily.com/releases/2014/03/140305191511.htm
Spanish National Research Council (CSIC). "Genetic cause found for premature ovarian failure." ScienceDaily. www.sciencedaily.com/releases/2014/03/140305191511.htm (accessed July 22, 2014).

Share This




More Health & Medicine News

Tuesday, July 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Courts Conflicted Over Healthcare Law

Courts Conflicted Over Healthcare Law

AP (July 22, 2014) — Two federal appeals courts issued conflicting rulings Tuesday on the legality of the federally-run healthcare exchange that operates in 36 states. (July 22) Video provided by AP
Powered by NewsLook.com
Why Do People Believe We Only Use 10 Percent Of Our Brains?

Why Do People Believe We Only Use 10 Percent Of Our Brains?

Newsy (July 22, 2014) — The new sci-fi thriller "Lucy" is making people question whether we really use all our brainpower. But, as scientists have insisted for years, we do. Video provided by Newsy
Powered by NewsLook.com
Scientists Find New Way To Make Human Platelets

Scientists Find New Way To Make Human Platelets

Newsy (July 22, 2014) — Boston scientists have discovered a new way to create fully functioning human platelets using a bioreactor and human stem cells. Video provided by Newsy
Powered by NewsLook.com
Gilead's $1000-a-Pill Drug Could Cure Hep C in HIV-Positive People

Gilead's $1000-a-Pill Drug Could Cure Hep C in HIV-Positive People

TheStreet (July 21, 2014) — New research shows Gilead Science's drug Sovaldi helps in curing hepatitis C in those who suffer from HIV. In a medical study, the combination of Gilead's Hep C drug with anti-viral drug Ribavirin cured 76% of HIV-positive patients suffering from the most common hepatitis C strain. Hepatitis C and related complications have been a top cause of death in HIV-positive patients. Typical medication used to treat the disease, including interferon proteins, tended to react badly with HIV drugs. However, Sovaldi's %1,000-a-pill price tag could limit the number of patients able to access the treatment. TheStreet's Keris Lahiff reports from New York. Video provided by TheStreet
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