Deficiency of the gene melanocortin 4 receptor (MC4R) is linked with obesity among adults. A recent study has found that the same deficiency also leads to surprising outcomes such as reduced risk of heart disease, lower cholesterol, and triglycerides. These results contradict the well-established correlation between obesity and cardiovascular diseases.
The researchers scanned the genetic profiles of 7,719 children from the Genetics of Obesity Study (GOOS) cohort. They identified 316 probands—first person in a family to draw medical attention to a genetic disorder —and 144 adult family members with obesity due to loss-of-function (LoF) MC4R mutations.
Even after adjusting for weight, these individuals showed better blood pressure profiles and cardiovascular health when compared to 336,728 controls from the UK Biobank.