New paper includes a comprehensive summary of all the known mutations in MC4R
In our recent paper published in Molecular Metabolism we include a comprehensive summary of all the known mutations in MC4R, the commonest genetic form of obesity. In this review of the field, we pulled together all the published papers, as well as unpublished data from our own team and from Karine Clement's team in Paris so that we could provide a list of all the mutations in one place.
We devised a functional classification which allows people to see which mutations have a more severe effect compared to others. As we thought it would be important to make this data easily accessible, we created a website where we could share this information and present a graphic which allows for easy visualisation of the different types of MC4R variant.
This should allow physicians receiving genetic testing results to be able to assess the potential significance of their findings and should also allow researchers to identify new questions that they can address to further our understanding of the role of MC4R signalling in the regulation of body weight. We also hope that this resource is something that can be expanded on in the future as we seek to find new treatments that target this pathway. Do check out our website www.mc4r.org.uk.