On the problem of female infertility: A search for genetic markers

In every one case out of ten, the reason behind female infertility turns out to be an orphan disease called 'hypogonadotropic hypogonadism', the single symptom of which is the reduced level of gonadotropins and, as a consequence, amenorrhea in females. Most often, hypogonadotropic hypogonadism is caused by disorder in secretion of gonadoliberin, the product of gene GNRH1. However, the disease is heterogeneous one, so it may origin from either genetic or non-genetic causes. To study the genetic component of the disease pathogenesis, we conducted molecular-genetic analysis of 11 gene-candidates controlling synthesis and secretion of gonadoliberin as well as several gene-candidates functioning as neurodevelopmental and neuroendocrine regulators. In the study participated a group of patients afflicted by hypogonadotropic hypogonadism of an isolated form (n = 10), and a control group of healthy women (n = 20). All women were of reproductive age, with no detected mutations in gene-candidates that could cause any pathological effect. The data on gene-candidates expression in white blood cells are indicative of an increased expression of gene GNRH1 in the sampled patients as compared to the control group (p < 0.05). Other genes demonstrate heterogeneous expression both in the patients group and the control group. Thus, increased expression of gene GNRH1 in blood cells appears to be associated with the isolated form of hypogonadotropic hypogonadism and, in prospect, may be used as one of the disease markers.