Gene involved in puberty identified

A team of UK and US scientists have identified a gene that triggers puberty, which they say could also help research into infertility and some cancer treatments. The scientists, based at Massachusetts General Hospital and biotech firm Paradigm Therapeutics, report that mutations in the gene prevent puberty starting in both mice and men. As well as helping people affected by early or late puberty, their findings could also be used to develop fertility-boosting drugs and possible new treatments for prostate cancer, the researchers claim.

Puberty beings when an area of the brain begins to release a hormone called GnRH, which in turn triggers the release of other hormones that affect the ovaries and testes. For the new study, the team looked at a family in which several members had inherited the rare condition, idiopathic hypogonadotrophic hypogonadism (IHH), which means they never start puberty. They found that affected individuals had mutations in a gene called GPR54, after learning that 'knock-out' mice bred to have no working GPR54 gene failed to reach puberty. Like their human counterparts, the mice were infertile. 'It's an elegant example of mouse genetics backing up human clinical research' said UK reproductive biologist Stephen Hillier. The findings were published in the New England Journal of Medicine.

The team thinks that GPR54 could play a key role in kick-starting production of the GnRH hormone, and so puberty. At the moment, people affected by IHH are treated with implants of GnRH, but drugs that replace GPR54 may offer a less intrusive alternative, says study author Stephanie Seminara. Drugs that block the action of GPR54 might also help to treat prostate cancer, reports Nature magazine, by dampening the effects of testosterone, which can increase tumour size.