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
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.
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.
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.
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.
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