kiss1-protein--human and Brain-Diseases

It is already known that the discovery of kisspeptin was a revolutionary step in the understanding of neuroendocrine regulation of reproduction. Kisspeptin is one of the main moderators of the gonadotropic axis, but the kisspeptin gene is known to be expressed in various regions of the central nervous system. The activity of kisspeptin is not limited to hypothalamic pituitary gonadal axis; it participates in the regulation of multiple neuronal circuits in the limbic system. The limbic system is a part of the brain involved in behavioural and emotional reactions, and disturbances in its functioning may be the source of some psychiatric as well as degenerative disorders. In the present review, we summarise the current state of knowledge concerning the role of kisspeptin in the limbic system and a new hope for the treatment of disturbances in its functioning.

Topics: Brain; Brain Diseases; Humans; Kisspeptins; Reproduction

Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height. Currently, few genetic determinants of children with CPP have been described. In this translational study, rare sequence variants in. Fifty-four index girls and two index boys with CPP were first tested by Sanger sequencing for the. Three previously described pathogenic. The results of the present study confirm the importance of the MKRN3-imprinted gene in genetics of CPP and its key role in pubertal timing. Overall, the results of the present study have emphasized the importance of an approach that aligns genetics and clinical aspects, which is necessary for the management and treatment of CPP.

Topics: Brain Diseases; Calcium-Binding Proteins; Child; Child, Preschool; Cohort Studies; Cyprus; DNA Mutational Analysis; Exome Sequencing; Female; Gene Frequency; High-Throughput Nucleotide Sequencing; Humans; Kisspeptins; Male; Membrane Proteins; Mutation; Puberty, Precocious; Receptors, Kisspeptin-1; Ubiquitin-Protein Ligases