Editing Proopiomelanocortin (section)

== Clinical significance ==

Mutations in this gene have been associated with early onset [[obesity]],<ref name="pmid22438814">{{cite journal | vauthors = Kuehnen P, Mischke M, Wiegand S, Sers C, Horsthemke B, Lau S, Keil T, Lee YA, Grueters A, Krude H | title = An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity | journal = PLOS Genetics | volume = 8 | issue = 3 | pages = e1002543 | year = 2012 | pmid = 22438814 | pmc = 3305357 | doi = 10.1371/journal.pgen.1002543 | doi-access = free }}</ref> [[adrenal insufficiency]], and [[red hair]] [[pigmentation]].<ref>{{cite web | work = Entrez Gene | title = POMC proopiomelanocortin | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5443}}</ref>

A study concluded that a [[Genetic polymorphism|polymorphism]] was associated with higher fasting [[insulin]] levels in the [[obese]] patients only. These findings support the hypothesis that the [[melanocortin]] pathway may modulate glucose metabolism in obese subjects indicating a possible gene-environment interaction. POMC variant may be involved in the natural history of [[polygenic]] obesity, contributing to the link between type 2 diabetes and obesity.<ref>{{cite journal | vauthors = Mohamed FE, Hamza RT, Amr NH, Youssef AM, Kamal TM, Mahmoud RA | date = 2017 | title = Study of obesity associated proopiomelanocortin gene polymorphism: Relation to metabolic profile and eating habits in a sample of obese Egyptian children and adolescents. | journal = Egyptian Journal of Medical Human Genetics | volume = 18 | issue = 1 | pages = 67–73 | doi = 10.1016/j.ejmhg.2016.02.009 | doi-access = free }}</ref>

[[Sepsis|Septic]] patients have increased circulating plasma concentrations of POMC.<ref>{{cite journal | vauthors = Téblick A, Vander Perre S, Pauwels L, Derde S, Van Oudenhove T, Langouche L, Van den Berghe G | title = The role of pro-opiomelanocortin in the ACTH-cortisol dissociation of sepsis | journal = Critical Care | volume = 25 | issue = 1 | pages = 65 | date = February 2021 | pmid = 33593393 | pmc = 7885358 | doi = 10.1186/s13054-021-03475-y | doi-access = free }}</ref> The clinical significance is currently under investigation. Further augmenting systemic glucocorticoid availability via infusion of [[hydrocortisone]] in [[Sepsis|septic]] mice resulted in a suppression of [[ACTH]], an endproduct of POMC, but not in a suppression of POMC.<ref>{{cite journal | vauthors = Téblick A, De Bruyn L, Van Oudenhove T, Vander Perre S, Pauwels L, Derde S, Langouche L, Van den Berghe G | title = Impact of Hydrocortisone and of CRH Infusion on the Hypothalamus-Pituitary-Adrenocortical Axis of Septic Male Mice | journal = Endocrinology | volume = 163 | issue = 1 | date = January 2022 | pages = bqab222 | pmid = 34698826  | pmc = 8599906 | doi=10.1210/endocr/bqab222 }}</ref>