Researchers have linked a genetic variant that inactivates the SMIM1 gene to an increased risk of obesity. These findings could lead to new treatments for obesity and help reduce the associated stigma.
Researchers have discovered a new reason why people who lack a certain blood type are genetically predisposed to being overweight or obese.
A genetic study conducted by the University of Exeter identified a link between the SMIM1 gene variant and obesity. Found in people without the Vel blood type, this type causes reduced energy expenditure at rest and can affect up to 300,000 people worldwide.
Genetic link with obesity found in blood group research
A team of international scientists led by the University of Exeter discovered that people have a genetic type that causes disability SMIM1 Gene has a higher body weight because he uses less energy at rest.
SMIM1 Only 10 years ago, during the search for the gene encoding a specific blood type, Vel, was identified. One in 5,000 people lacks both copies of the gene, making them Vel negative. New research findings show that this group is also more likely to be overweight, a result that could one day lead to new treatments. The study found that people who lack both copies of this gene have other criteria, including high levels of fat in the blood, symptoms of adipose tissue dysfunction, elevated liver enzymes, as well as lower levels of thyroid hormones associated with obesity.
Implications for health care and treatment
The study was published today (June 20) in the journal Medicine With and was funded by the National Institutes of Health (NIH) and Care Research and the British Heart Foundation. The collaboration included partners at the University of Cambridge, the Sanger Institute, the University of Copenhagen in Denmark and Lund University in Sweden.
Lead author Mattia Frantini, associate professor of cell biology at the University of Exeter’s School of Medicine, said: “Obesity rates have almost tripled in the past 50 years and by 2030, more than one billion people worldwide are predicted to be obese. Diseases and related complications place a significant economic burden on health care systems. Obesity is caused by an imbalance between energy intake and expenditure, which is often a complex interaction of lifestyle, environmental and genetic factors.
In a small minority of people, obesity is caused by genetic variants. When this is the case, new treatments can sometimes be found that benefit these people. “Our findings show the need to investigate the genetic cause of obesity, choose the most appropriate and effective treatment, and also reduce the social stigma associated with it.”
Genetic studies reveal new insights
To make the discovery, the genetics team analyzed almost 500,000 participants in the UK Biobank cohort and identified 104 individuals with the variant causing loss of function. SMIM1 genes (46 females and 44 males). The team also used the NIHR’s National Bioresources to obtain fresh blood samples from negative and positive individuals.
The NIHR National BioResource worked in partnership with NHS Blood and Transplant (NHSBT) – which includes more than 100,000 blood donors registered to support genetic research studies. Extrapolation of frequencies detected in these groups means SMIM1 This type can be a major factor in obesity for about 300,000 people worldwide.
The team investigated the effects they found in four other groups of people with the disease SMIM1 Gene variant. They found that having this type affects weight, averaging 4.6 kg in women and 2.4 kg in men.
Future research and practical applications
“SMIM1 was discovered only a decade ago as a long-sought-after blood group protein on red blood cells, but its other functions have remained largely unknown,” said co-author Jill Storey, assistant professor at Lund University, Sweden. Is. It is very exciting to realize that it plays a more general role in human metabolism.
Professor Ole Pedersen from the University of Copenhagen, Denmark, one of the authors of the paper, said: “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.
First author Dr Luca Stefanucci, at the University of Cambridge, said: “With increasing access to genetic data and more information about the mechanism of SMIM1, we would like to see people receiving information and support when they are identified as lacking SMIM1.”
Reference: “Absence of SMIM1 is associated with reduced energy expenditure and weight gain” 20 Jun 2024, With.
DOI: 10.1016/j.medj.2024.05.015
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