Endocrine Abstracts

Mutations in the melanocortin-4 receptor (MC4R) are the most common cause of monogenic obesity. The majority of MC4R mutations are predicted to cause the receptor to aberrantly fold. Misfolded MC4R fails to traffic to the plasma membrane (PM) and is retained in the endoplasmic reticulum (ER). Recent studies with other G-protein coupled receptors have shown that stabilisation of misfolded receptor, by pharmacological chaperones, promotes trafficking to the cell surface where th...