Rabat – A Moroccan medical research team has announced a discovery of a new gene responsible for a genetic disease that leads to reproductive hormone imbalances in children.
The study was conducted by the Center for Genomics of Human Pathologies (GENOPATH) at the Rabat Faculty of Medicine and Pharmacy (FMP) in collaboration with the Ophthalmology Center at Abulcasis International University of Health Sciences (UIASS).
Pr. Ahmed Bouhouch, a geneticist at FMP in Rabat, and Dr. Mohamed Belmekki, a specialist in ophthalmology at UIASS, participated in the breakthrough discovery. They received assistance from a specialized team in endocrine-related conditions at the University hospital of Ibn Sina, UIASS pediatrics department, and the Scientific and Technical Research Support Unit at the National Center for Scientific Research.
The findings were published in the 209th volume of the prestigious scientific journal Experimental Eye Research in an article titled: “Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome”
“This study focused on two boys from a double consanguineous marriage who had suffered from an eye disease beginning in childhood,” said the team’s paper.
With this article, the researchers have revealed how the symptoms of this new condition lie in the “thinning of the cornea, blue sclera, keratoconus, hyperelasticity of the skin, joint hypermobility, muscle weakness, hearing loss and dental abnormalities” It also argues that a decrease in sex hormones leads to a delay in sexual maturity.
“Mutation in SDR42E1 leads to a new oculocutaneous genital syndrome (OCGS) by altering the process of steroid biosynthesis,” said the paper. The study concluded that “the essential role of SDR42E1 in the regulation of cholesterol metabolism in the maintenance of connective tissue and sexual maturation in humans.”
