0000000001051104
AUTHOR
S. Corbetta
GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS.
INTRODUCTION: Defects of prokineticin pathway affect the neuroendocrine control of reproduction, but their role in the pathogenesis of central hypogonadism remains undefined, and the functional impact of the missense PROKR2 variants has been incompletely characterized. MATERIAL AND METHODS: In a series of 246 idiopathic central hypogonadism patients, we found three novel (p.V158I, p.V334M, and p.N15TfsX30) and six already known (p.L173R, p.T260M, p.R268C, p.V274D, p.V331M, and p.H20MfsX23) germline variants in the PROKR2 gene. We evaluated the effects of seven missense alterations on two different prokineticin receptor 2 (PROKR2)-dependent pathways: inositol phosphate-Ca(2+) (Gq coupling) a…
Supplementary Material for: Appendicular Muscle Mass, Thigh Intermuscular Fat Infiltration, and Risk of Fall in Postmenopausal Osteoporotic Elder Women
Background: The association between the quantity and composition of skeletal muscle and the decline in physical function in elderly is poorly understood. Therefore, the primary aim of this cross-over study was to investigate the association between thigh intermuscular adipose tissue (IMAT) infiltration, appendicular muscle mass, and risk of fall in postmenopausal osteoporotic elder women. Second, we examined the differences in muscle mass, IMAT, and risk of fall in the same sample of older subjects after being classified as sarcopenic or nonsarcopenic on the basis of the dual-energy X-ray absorptiometry (DXA)-based Appendicular Skeletal Muscle Mass Index (ASMMI). Methods: Twenty-nine subjec…