Identify a genetic mutation associated with the alteration of sexual development and sterility

MADRID, (EUROPA PRESS) A study led by researchers at Massachusetts General Hospital in Boston (united States) shows that the alterations in the gene PROK2 can cause a condition that affects sexual development and the sense of smell. The results of their study are published this week in the edition’re a digital magazine ‘Proceedings of the National Academy of Sciences’ (PNAS).

The study shows that the mutaci’n gene of the proquineticina 2 (PROK2) cause hypogonadism hipogonadotr’peak idiopático (HHI), a disorder characterized by a maduraci’n sexual incomplete and sterility. Patients with HHI can have a normal sense of smell (HHIn) or none at all, something known as sísevere Kallman, or KS. The PROK2 was one of the many genes that were suspected to intervenían, the HHI, and has been studied because it is expressed both in the watch center of the brain and in the olfactory bulb in development. Scientists’graphics, directed by Nelly Pitteloud, studied a family in which two brothers tenían, KS and a sister HHIn. The three were carrying two copies of one version’ve shortened and inactive of PROK2. A third brother, with s’one copy of the mutant gene, showed no signs of the disease. The researchers alsoén they found that the mice with the gene PROK2 off tenían s’symptoms similar to those of the human disease, with defects in olfactory bulb,’n neural altered, and a smaller population’n of specialized neurons in the hipotálamo in comparaci’n with normal mice. The authors suggest that further studies on the role of PROK2 in the neural development can’w to provide más data on the maduraci’n sexual.