Article
Case report: Nerve fiber regeneration in children with melanocortin 4 receptor gene mutation related obesity treated with semaglutide.
Frontiers in endocrinology - 1 Jan 2024
Gad Hoda, Mohammed Idris, Dauleh Hajar, Pasha Maheen, Al-Barazenji Tara, Hussain Khalid, Malik Rayaz A
Abstract excerpt
Melanocortin 4 receptor (MC4R) mutations are the commonest cause of monogenic obesity through dysregulation of neuronal pathways in the hypothalamus and prefrontal cortex that regulate hunger and satiety. MC4R also regulates neuropathic pain pathways via JNK signaling after nerve injury. We show evidence of corneal small fiber degeneration in 2 siblings carrying a heterozygous missense variant c.508A>G,...
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