What is it about?
Glycoprotein hormones are vital for normal physiological development, fertility, thyroid and placental function. Factors that disrupt normal secretion of these hormones produce dramatic disease effects. A very rare mutation in the gene coding for the luteinizing hormone beta subunit led us to a region common to all of the glycoprotein hormones. Specific disruptions of this region prevented normal secretion of all the glycoprotein hormones, indicating a vital area for regulation of these crucially-important hormones.
Why is it important?
Glycoprotein hormones (TSH, LH, hCG and FSH) are essential for a series of physiological functions. Thus, mutations of these hormone peptides are extremely rare. Although some mutations e.g. in the signal peptide have obvious phenotypes, the one described here, in the LHb, affects its secretion despite being 20 amino acids away from the signal peptide. The missing amino acid is conserved in FSHb and hCGb and replaced for a similar amino acid (Arginine) in TSHb, deleting the amino acid either of these glycoproteins result in a retention phenotype as in LHb-K40del. Moreover, we have developed an assay to test this, and hitherto, glycoprotein mutations.
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This page is a summary of: A vital region for human glycoprotein hormone trafficking revealed by an LHB mutation, Journal of Endocrinology, September 2016, Bioscientifica, DOI: 10.1530/joe-16-0384.
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