Thursday, 11 June 2015

Health: infertility genetic discovered 'hereditary

(AGI) - Milan, A hereditary form of infertility 'may' arise due to a genetic alteration that impedes the survival of key neurons in the control of puberty '.To find out 'was a research coordinated by Anna Cariboni, Department of Pharmacological Sciences the University College of London. The results were published in the Journal of Clinical Investigation.  Genetic forms of infertilia 'include disease caused by a deficiency of GnRH, the hormone that controls the synthesis of sex hormones, such as hypogonadotropic hypogonadism and Kallmann syndrome.

Most of these diseases do not know the genetic causes, but one of the possible mechanisms there and 'a lack of development during fetal life of the neurons that produce GnRH. The researchers found a genetic hitherto unknown in two brothers with Kallmann syndrome. Using a multidisciplinary approach, scientists have identified the lack of a molecule, called "Semaforina3E", which normally protects the GnRH neurons on their way from the nose to the brain compartment. In the absence of this molecule, in the fetal stage, the GnRH neurons die prematurely in the brain, preventing the start of puberty ', in particular in adolescent boys, more' frequently affected by these genetic forms of infertility '.

The molecule was already 'known for its role in the development of blood vessels but had never been associated with human reproduction. "This molecule, which is essential for the proper formation of neural connections in the developing brain, and 'proved equally crucial - said Cariboni and Ruhrberg - for the survival of neurons deputies production sex hormone GnRH and thus to determine the' start of puberty '. This study opens up significant possibilities for early diagnosis of many genetic forms of infertility.' "

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