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article imageGenes have been discovered for the brain pathway that triggers puberty

By Bart B. Van Bockstaele     Dec 12, 2008 in Science
Four Turkish families with a genetic abnormality that prevents children from developing normally into adults, have enabled geneticists to find genes that trigger the onset of adulthood.
Researchers from Cukurova University, Turkey and the University of Cambridge, UK, were able to show that these families have mutations in the genes that are responsible for making neurokinin B, a brain peptide, or the receptor of that peptide.
According to Nature, eight children in the four families have nIHH (normosmic idiopathic hypogonadotropic hypogonadism), which prevents them from developing normal secondary sexual characteristics during adolescence. The male children have a small penis and their testes do not descend. For the rest, they are normal, physically and mentally.
The study suggests that neurokinin B is of key importance in stimulating the hypothalamus to release GnRH (Gonadotropin Releasing Hormone). In turn, this leads the pituitary gland to releasing two other hormones, luteinising hormone and follicle stimulating hormone, and they start the synthesis of sex hormones in the ovaries and the testes.
By analysing the genomes of children with the disorder and children without the disorder, the researchers were able to locate two mutations in two genes, namely TAC3 and TACR3. These genes are known to encode neurokinin B or its receptor molecule.
This discovery is, obviously, quite important because it enhances what we know about the human species, and about what genes do and how they do it, but it is -potentially- of enormous importance for the individuals afflicted by the condition. It offers a first glimmer of hope that there will be a working treatment and maybe even a prevention sometime in the future.
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Glossary
peptide: an amide that connects two amino acids by linking the amino group of one amino acid to the carboxyl group of the second amino acid. These are called dipeptides. If there are more amino acids in the group, they can be tripeptides (3), tetrapeptides (4), pentapeptides (5)... polypeptides (many).
normosmic = being able to smell normally
idiopathic = of which the cause is unknown
hypogonadotropic = related to a deficiency of gonadotropin
gonadotropin = any hormone that stimulates the gonads (sex-cell producing glands)
hypogonadism = decreased functional activity of the gonads, with retardation of growth, sexual development, and secondary sexual characteristics.
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