Evaluation of the MC3R gene pertaining to body weight and height regulation and puberty development.

Sci Rep

Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Virchowstr. 174, 45147, Essen, Germany.

Published: June 2023

AI Article Synopsis

  • Eleven genetic variants were identified through Sanger sequencing of MC3R in groups of children and adolescents with short stature, obesity, and lean individuals; notable among these were three rare loss-of-function variants only found in those with severe obesity.
  • There was a significant deviation in findings related to the p.Val44Ile variant among short stature individuals, suggesting that certain MC3R dysfunctions are connected to issues like obesity, decreased height, and delayed puberty.

Article Abstract

Recent studies reported an impact of the melanocortin 3 receptor (MC3R) on the regulation of body weight, linear growth and puberty timing. Previously, allele p.44Ile of a frequent non-synonymous variant (NSV) p.Val44Ile was reported to be associated with decreased lean body mass (LBM) and later puberty in both sexes. We Sanger sequenced the coding region of MC3R in 185 children or adolescents with short normal stature (SNS) or 258 individuals with severe obesity, and 192 healthy-lean individuals. Eleven variants (six NSVs) were identified. In-silico analyses ensued. Three rare loss-of-function (LoF) variants (p.Phe45Ser, p.Arg220Ser and p.Ile298Ser) were only found in severely obese individuals. One novel highly conserved NSV (p.Ala214Val), predicted to increase protein stability, was detected in a single lean female. In the individuals with SNS, we observed deviation from Hardy-Weinberg Equilibrium (HWE) (p = 0.012) for p.Val44Ile (MAF = 11.62%). Homozygous p.44Ile carriers with SNS had an increased BMI, but this effect did not remain significant after Bonferroni correction. In line with previous findings, the detected LoF NSVs may suggest that dysfunction in MC3R is associated with decreased body height, obesity and delayed puberty.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300021PMC
http://dx.doi.org/10.1038/s41598-023-37344-1DOI Listing

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