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
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.
WeightControl.com: Are there patients who should be tested for SMIM1 ?
Response: No. While our findings pave the way for further research into the use of thyroid supplementation, 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: What should readers take away from your report?
Response: The causes of obesity are complexes and multifaceted, in a minority of cases, the genetic contribution is much higher than in the rest of the population and depending on the faulty gene at play, a treatment might be available.
WeightControl.com: What recommendations do you have for future research as a result of this work?
Response: We will continue our research with the aim to determine if the type of hypothyroidism that we have observed has the necessary characteristics that will make it eligible for thyroid supplementation, then we want to run a clinical trial to determine if the supplementation is effective. About 2% of the population in the United Kingdom uses thyroid supplementation. This is a cheap, established and safe treatment
No conflicts of interest.
Citation: Luca Stefanucci et al. SMIM1 absence is associated with reduced energy expenditure and excess weight. Med, 2024; DOI: 10.1016/j.medj.2024.05.015
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Last Updated on June 24, 2024 by weightcontrol