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An international research team led by the University of Exeter has made a significant breakthrough in understanding the genetic factors contributing to obesity.

Their study, recently published in the journal Med, focuses on a genetic variant that affects the SMIM1 gene, which was only identified a decade ago during research into the Vel blood group.

This genetic variant, found in about one in 5,000 people who are Vel-negative (lacking both copies of the SMIM1 gene), has now been linked with higher body weight and reduced energy expenditure at rest.

The study, involving collaborations with the University of Cambridge, the Sanger Institute, Copenhagen University, and Lund University, examined nearly 500,000 participants from the UK Biobank cohort.

The findings suggest that individuals with this genetic variant not only weigh more on average—4.6 kg extra for females and 2.4 kg for males—but also show other signs typically associated with obesity.

These include high levels of fat in the blood, indications of fat tissue dysfunction, elevated liver enzymes, and decreased thyroid hormone levels. These characteristics suggest a broader role for the SMIM1 gene in regulating body metabolism and energy balance.

Associate Professor Mattia Frontini, lead author of the study from the University of Exeter Medical School, emphasized the impact of these findings given the global rise in obesity rates. “Obesity is due to an imbalance between energy intake and expenditure,” Frontini explained.

“In a small minority of people, obesity is caused by genetic variants. Our findings highlight the need to investigate the genetic cause of obesity, to select the most appropriate and effective treatment, but also to reduce the social stigma associated with it.”

The research also utilized resources from the NIHR National BioResource, with additional support from NHS Blood and Transplant (NHSBT), to obtain fresh blood samples for further analysis.

This comprehensive approach allowed the team to confirm the presence of the SMIM1 variant in additional cohorts, thereby reinforcing the connection between this genetic alteration and obesity.

Jill Storry, an adjunct professor at Lund University and co-author of the study, remarked on the broader implications of their discovery.

“SMIM1 was only discovered a decade ago, as a long-sought blood group protein on red blood cells, but its other function has remained unknown until now. It’s very exciting to find that it has a more general role in human metabolism.”

The research team is optimistic about the potential for these insights to lead to targeted treatments for people genetically predisposed to obesity due to the SMIM1 variant.

“The whole team is very much looking forward to seeing how this new knowledge can be translated into practical solutions for people with this genetic makeup,” added Professor Ole Pedersen from the University of Copenhagen.

Dr. Luca Stefanucci from the University of Cambridge noted the importance of advancing genetic understanding in clinical practice.

“With the increased availability of genetic data, and more information on SMIM1 mechanism, we would like to see that when individuals lacking SMIM1 are identified, they receive information and support.”

This study marks a pivotal step in the journey to understand and potentially mitigate the genetic contributions to obesity, offering hope for personalized medical interventions in the future.

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The research findings can be found in Stroke.

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