Page URL:

Early puberty linked to paternal gene mutation

10 June 2013
Appeared in BioNews 708

A type of premature puberty known as central precocious puberty is caused by mutations in a gene inherited from fathers, according to a study from Brigham and Women's Hospital, USA.

The research may help explain why patients from families with a history of early puberty are affected and identify other members at risk.

'These findings will open the door for a new understanding of what controls the timing of puberty', said Dr Ursula Kaiser, 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'.

Central precocious puberty is where puberty begins before age eight in girls and age nine in boys. As well as having a negative impact on social and psychological development, this can lead to a higher risk of chronic diseases such as breast cancer, heart disease and diabetes.

The researchers performed whole-exome sequencing (the exome comprises all genes known to code for proteins) of 40 individuals from 15 families with central precocious puberty. In five of the families, they identified mutations in the MKRN3 gene which is linked to the activation of pubertal hormones.

These mutations disrupt the function of one of the proteins that triggers puberty, makorin RING-finger protein 3. The MKRN3 gene is paternally expressed, which means that only the copy of the gene inherited from the father is used in making proteins.

Although early puberty is likely to involve both genetic and environmental factors, the timing of its onset is not well understood. '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', said Dr Kaiser.

'Although the finding of a genetic cause for central precocious puberty is a significant contribution to further understanding human puberty, an explanation of why puberty starts at about the time of the junction of the first and second decades of human life has yet to be had', Professor Ieuan Hughes commented in a New England Journal of Medicine editorial.

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3
New England Journal of Medicine |  5 June 2013
Early puberty may be caused by gene mutation
Fox News |  6 June 2013
Genetic Mutation Inherited from Father's Side Linked to Early Puberty
Science Daily (press release) |  5 June 2013
Releasing the Brake on Puberty
New England Journal of Medicine (editorial) |  5 June 2013
Scientists Identify Gene That Spurs Early Puberty
Time |  6 June 2013
28 July 2014 - by Dr Rosie Morley 
Researchers have identified genetic factors that are involved in determining the age at which a child reaches puberty, in a genome-wide study looking at over 182,000 women...
29 November 2010 - by Chris Chatterton 
An international study has uncovered new genes linked to the early onset of puberty and increased likelihood of obesity. The researchers performed a meta-analysis of 32 genome-wide association studies (GWAS) involving over 100,000 women from Europe, the US and Australia....
1 May 2009 - by Heidi Colleran 
The first evidence for a genetic influence on the timing of female sexual maturation has been found by an international team of scientists, led by the Institute of Biomedical and Clinical Science in the Peninsula Medical School at Exeter (PMSE). The study, reported in the journal Nature...
16 December 2008 - by Adam Fletcher 
A collaborative project between groups based at the University of Cambridge, UK, and the University of Cukurova, Turkey, has unveiled a link between a hormone and the onset of puberty. Eight Turkish children with a rare genetic disorder, in which puberty does not reach completion, were found...
13 March 2007 - by Heidi Nicholl 
Scientists at Imperial College, London have trialled a potential new treatment for infertility in healthy female volunteers. Kisspeptin is a reproductive hormone discovered in the town of Hershey, Pennsylvania and named after the town's most famous export ('Hershey's Kisses' chocolates). Mutations in the receptor for Kisspeptin result...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.