No abstract

The MC4R is involved in the leptin-melanocortin pathway which mutations can lead to severe forms of obesity. We report one rare mutation p.Met215Ile in a woman with morbid obesity. This mutation leads to changes in protein structure through the loss of hydrophobic interactions and it is predicted to be disease-causing.

This is an open access article under the terms of the Creat ive Commo ns Attri butio n-NonCo mmerc ial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.