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Melanocortin 4 receptor mutations become common.

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Melanocortin 4 receptor (MC4R) loss-of-function mutations are more common than previously thought, affecting 1 in 337 individuals. These mutations significantly correlate with increased body weight and fat mass throughout life.

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Area of Science:

  • Genetics and genomics
  • Metabolic disorders
  • Human physiology

Background:

  • Melanocortin 4 receptor (MC4R) is crucial in regulating energy homeostasis.
  • Previous estimates of MC4R loss-of-function (LoF) mutation frequency were lower.
  • Understanding MC4R LoF prevalence is key to addressing obesity.

Purpose of the Study:

  • To determine the frequency of MC4R loss-of-function (LoF) mutations.
  • To investigate the association between MC4R LoF variants and body weight/fat mass.
  • To provide evidence on the commonality of MC4R LoF variants.

Main Methods:

  • Analysis of a population-based cohort: Avon Longitudinal Study of Parents and Children (ALSPAC).
  • Genotyping to identify MC4R loss-of-function mutations.
  • Statistical correlation analysis between MC4R LoF variants and anthropometric measurements (body weight, fat mass).

Main Results:

  • The frequency of MC4R loss-of-function mutations was found to be 1 in 337 individuals.
  • MC4R LoF variants significantly correlated with increased body weight and fat mass.
  • Individuals with MC4R LoF variants accumulated an additional 17.76 kg of weight in adulthood.

Conclusions:

  • MC4R loss-of-function variants are more prevalent than previously estimated.
  • MC4R LoF mutations are a significant genetic factor contributing to obesity.
  • These findings highlight the importance of MC4R in human weight regulation.