Conformational Change in the Ligand-Binding Pocket via a KISS1R Mutation (P147L) Leads to Isolated Gonadotropin-Releasing Hormone Deficiency.

ABSTRACT:

Context

Kisspeptin receptor (KISS1R) is expressed in hypothalamic gonadotropin-releasing hormone neurons and responsible for pubertal onset and reproductive functions. KISS1R mutations remain a rare cause of congenital hypogonadotropic hypogonadism (CHH).

Objective

The aim of this study was to identify the genetic cause of CHH in a patient and to functionally characterize a KISS1R mutation.

Design

The patient was a 47-year-old Japanese man whose parents were first cousins. He lacked secondary sexual characteristics owing to normosmic CHH. Exon segments for the KISS1R gene in this patient were screened for mutations. Functional analyses were performed using HEK293 cells expressing KISS1R mutants. Molecular dynamics simulations were performed to com

SUBMITTER: Shimizu K 

PROVIDER: S-EPMC5686787 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature