Study summary · research use only
Polymorphism of Melanocortin Receptor Genes-Association with Inflammatory Traits and Diseases
Plain-language summary
Paraphrased from the published abstract below — not a verdict on whether anything works.
This review discusses melanocortin receptors (MC1R-MC5R) and their genetic polymorphisms in relation to inflammatory and other conditions; species not specified. It notes associations between mutations in MC1R, MC2R, MC3R, and MC4R genes and melanoma risk, familial glucocorticoid deficiency, obesity, and type 2 diabetes, respectively, and links MC1R, MC2R, and MC5R to major depressive disorder risk. The review lists melanocortin receptor involvement in disorders including atopic dermatitis, autoimmune uveitis, sarcoidosis, multiple sclerosis, and arthritis, and notes that the FDA has approved repository corticotropin injection for sarcoidosis and agonists including bremelanotide, afamelanotide, and setmelanotide for other indications. The review cites the MC1R agonist dersimelagon as having shown improvement in systemic sclerosis.
Abstract
Melanocortin receptors (MCRs) are responsible for various functions ranging from skin pigmentation, regulation of appetite, stress response and cognition, steroid synthesis, and energy balance to cellular regeneration and immunomodulation. The genetic polymorphism with tissue distribution ranging from the brain, limbic system, and adrenal cortex to neutrophils, monocytes, and macrophages is evident in MCRs. The mutations in MC1R, MC2R, MC3R, and MC4R genes are associated with risk of melanoma, familial glucocorticoid deficiency, obesity, and type 2 diabetes mellitus, respectively. Meanwhile, MC1R, MC2R, and MC5R genes are involved in the risk of major depressive disorder. Melanocortin receptors are involved in different inflammatory disorders, i.e., atopic dermatitis, autoimmune uveitis, sarcoidosis, respiratory diseases, multiple sclerosis, scleroderma, inflammatory bowel disease, amyotrophic lateral sclerosis, Alzheimer's disease, arthritis, and reperfusion injury. Several newer therapeutic agents related to MCRs have numerous advantages over the current anti-inflammatory drugs, demonstrating therapeutic relevance. Among them, α-MSH analogs play a role in atopic dermatitis and scleroderma, and MC1R agonist Dersimelagon has shown effectiveness in systemic sclerosis. The FDA has recently approved the repository corticotropin injection (RCI) to treat sarcoidosis. The FDA has also approved various melanocortin agonists, i.e., Bremelanotide, Afamelanotide, and Setmelanotide, for the treatment of hypoactive sexual desire disorder, Erythropoietic protoporphyria, and obesity, due to pro-opiomelanocortin and leptin receptor deficiency, respectively. Therefore, this review aims to summarize the function and genetic polymorphism of melanocortin receptors, regulatory pathways involving MCRs, and the existing evidence of the prime effect of MCRs on inflammatory responses via different mechanisms and their potential therapeutic use in inflammatory diseases.
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