In a groundbreaking study, researchers have identified a specific genetic mutation linked to obesity, challenging the conventional understanding that weight management is solely about diet and exercise. According to the study published in the journal Med, a mutation in the SMIM1 gene has been identified as a significant factor contributing to obesity in some individuals.
Dr. Mattia Frontini, the lead author of the study and a senior fellow at the British Heart Foundation, highlighted the complexity of obesity’s causes. “Obesity’s causes are very complex and in the majority of cases, a combination of many factors. In this study, however, we found a clear genetic trigger for obesity,” he stated.
Using data from the UK Biobank, a comprehensive biomedical database, researchers compared individuals with two faulty copies of the SMIM1 gene to those without the mutation. The findings revealed that women with this genetic variant weighed an additional 4.6 kilograms (10.14 pounds) on average, while men weighed an extra 2.4 kilograms (5.29 pounds).
Dr. Frontini explained that the mutation in the SMIM1 gene leads to decreased thyroid function and lower energy expenditure. “Given the same food intake, less energy is used, and this excess is stored as fat,” he noted.
Dr. Philipp Scherer, director of the Touchstone Diabetes Center at the University of Texas Southwestern Medical Center, praised the study for its clarity in identifying a specific gene rather than a vague genomic locus. “It is an exciting study in that it puts a new gene on the map. We think we’re looking at a gene here that we can further study,” Scherer said.
The prevalence of this genetic mutation is relatively low, affecting about 1 in 5,000 people. Despite its rarity, this translates to a significant number of individuals who may unknowingly struggle with obesity due to their genetic makeup. “You multiply that to a population of 10 (million), 15 million and there’s quite a few people out there that would walk around with that mutation,” Scherer added.
Thyroid dysfunction, which affects nearly 2% of the UK population, is often treated with affordable medication. The researchers aim to determine if individuals with the SMIM1 mutation can benefit from similar treatments. “If they do, we plan to run a randomized clinical trial to determine if they would benefit from the treatment,” Frontini said, expressing hope that this could improve the quality of life for affected individuals.
While genetic factors are a crucial piece of the puzzle, obesity is influenced by a myriad of elements including lifestyle habits, sleep, medications, health conditions, and environment, according to the National Institute of Diabetes and Digestive and Kidney Diseases.
Registered dietitian Brooke Alpert emphasizes a balanced approach to weight management. “Severe restrictive dieting is not the answer,” she said, cautioning against demonizing foods, which can lead to cycles of restriction and bingeing.
As research into genetic factors and potential treatments continues, current best practices for obesity treatment include GLP-1 medications, according to Dr. Scherer.
This study represents a significant step forward in understanding the genetic underpinnings of obesity and opens the door to potential new treatments that could help those affected by this genetic mutation.
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