Scientists at a University of Cambridge spin-out company have identified a gene required for triggering the onset of puberty. The discovery of the gene, known as GPR54, could lead to better treatments for abnormal puberty, cures for testicular and breast cancers, and even to a radical new form of contraception.
Scientists at a University of Cambridge spin-out company have identified a gene required for triggering the onset of puberty. The discovery of the gene, known as GPR54, could lead to better treatments for abnormal puberty, cures for testicular and breast cancers, and even to a radical new form of contraception.
The research, conducted by scientists at University spin-out, Paradigm Therapeutics Ltd., reveals the essential role of GPR54 in initiating the secretion of hormones during puberty. These so-called gonadotropin hormones stimulate the production of sex steroids that, in turn, induce the physical signs of sexual maturation.
Until now, the factors that control the onset of gonadotropin secretion have been largely unknown. Dr Samuel Aparicio, co-founder of Paradigm, and Principal Investigator in Cambridge University's Department of Oncology, explains that GPR54 is the missing piece in an old hormonal puzzle:
"GPR54 is a receptor gene whose role in the control of sex steroids was previously unsuspected. Our work has shown that signalling through this receptor is required for the normal production of hormones that occurs at puberty."
The Paradigm team discovered the importance of GPR54 while investigating the effects of genetic mutation in laboratory mice.
Dr Bill Colledge of Cambridge University's Department of Physiology, a senior collaborator on the study said,
"The GPR54-deficient mice did not produce sex steroids and failed to undergo normal sexual development. Organs expected to mature during puberty, including testes and ovaries, remained small and in a juvenile state."
These symptoms are remarkably similar to those seen in human sufferers of sex-steroid deficiency, leading the scientists to conclude that the newly-discovered role of GPR54 in sexual development is fundamentally conserved across the evolutionary gap between man and mouse.
As a result, Dr Aparicio explains, GPR54 has enormous potential as a "target for therapeutic intervention in sex-steroid related conditions" in humans. A new physiological contraceptive method based on controlling hormone production, and a method of inhibiting sex-steroids to prevent breast and testicular cancers are just two of the exciting developments that the new understanding of GPR54 could, in time, make possible.
"Relating mouse genetic studies to human disease is a hallmark of molecular translational medicine and provides key mechanistic insights into human physiology. It is a powerful means of validating new therapeutic targets," he added.
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