Mutations in the insulin-like factor 3 receptor are associated with osteoporosis.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
Alberto FerlinCarlo Foresta

Abstract

Insulin-like factor 3 (INSL3) is produced primarily by testicular Leydig cells. It acts by binding to its specific G protein-coupled receptor RXFP2 (relaxin family peptide 2) and is involved in testicular descent during fetal development. The physiological role of INSL3 in adults is not known, although substantial INSL3 circulating levels are present. The aim of this study was to verify whether reduced INSL3 activity could cause or contribute to some signs of hypogonadism, such as reduced BMD, currently attributed to testosterone deficiency. Extensive clinical, biochemical, and hormonal study, including bone densitometry by DXA, was performed on 25 young men (age, 27-41 yr) with the well-characterized T222P mutation in the RXFP2 gene. Expression analysis of INSL3 and RXFP2 on human bone biopsy and human and mouse osteoblast cell cultures was performed by RT-PCR, quantitative RT-PCR, and immunohistochemistry. Real-time cAMP imaging analysis and proliferation assay under the stimulus of INSL3 was performed on these cells. Lumbar spine and femoral bone of Rxfp2-deficient mice were studied by static and dynamic histomorphometry and muCT, respectively. Sixteen of 25 (64%) young men with RXFP2 mutations had significantly reduced BMD....Continue Reading

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Citations

May 2, 2014·Journal of Molecular Endocrinology·Raifish E Mendoza-VillarroelJacques J Tremblay
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Jan 5, 2012·PloS One·Alberto FerlinCarlo Foresta
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May 7, 2009·Annals of the New York Academy of Sciences·Alberto FerlinCarlo Foresta
May 7, 2009·Annals of the New York Academy of Sciences·Arianna FacciolliCarlo Foresta
May 7, 2009·Annals of the New York Academy of Sciences·Alberto FerlinCarlo Foresta
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