Novel melanocortin-3 and -4 receptor functional variants in Asian children with severe obesity.

Siong Gim OngRoghayeh DehghanRajkumar DorajooJian-Jun LiuAndrew Anjian SngYung Seng Lee Delicia Shu Qin Ooi

Published in: The Journal of clinical endocrinology and metabolism (2023)

Our functional assays demonstrated that MC3R c.127G > A (p.Glu43Lys) and MC4R c.272T > G (p.Met91Arg) variants might be predisposing to early-onset obesity and further studies are needed to establish the causative effect of these variants in the pathogenesis of obesity.

Keyphrases

early onset
insulin resistance
metabolic syndrome
weight loss
copy number
high fat diet induced
type diabetes
weight gain
late onset
young adults
adipose tissue
tyrosine kinase
skeletal muscle
high throughput
dna methylation
binding protein
single cell
case control