Two Faulty Copies of SMIM1 Gene Associated with Obesity

The vast majority of people who are struggling with their weight will not have two faulty copies of the gene and their GP should be their first port of call.

WeightControl.com Interview with:
Dr. Mattia Frontini, Sr BHF Fellow
Associate Professor Cellular Biology
Department of Clinical and Biomedical Sciences
University of Exeter Medical School
Faculty of Health and Life Sciences

Dr. Mattia Frontini, Sr BHF Fellow
Associate Professor Cellular Biology
Department of Clinical and Biomedical Sciences
University of Exeter Medical School
Faculty of Health and Life Sciences

RILD Building, Barrack Road, Exeter,

WeightControl.com:  What is the background for this study? What are the main findings?

Response:   The initial discovery of the gene and its faulty copy, ten years ago, was motivated by the need to develop a genetic test for a difficult to type, using traditional methods, blood group known as Vel. After this discovery was made, we discovered also that the differences in these genes that exist in the population are associated to tiny changes in the blood red cell parameters.

When the UK Biobank data became available we analysed these to determine if having the faulty copy of the gene had an effect on health. We found that people with two faulty copies of the gene (about 1 in 5000) are heavier than those who don’t. They have altered lipids in their blood and they use less energy given the same caloric intake. The excess going being stored as fat.

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