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Two genetic variants have been discovered in the genes BSN and APBA1 that are linked to an increased risk of obesity in adults, according to a new study published in Nature Genetics. These rare variants, found in only one in 6,500 adults, are associated with a six-fold increase in obesity risk for the Bassoon gene and a nominally significant increase for the APBA1 gene. Additionally, the rare Bassoon gene variants were also found to be linked to an increased risk of developing type 2 diabetes and nonalcoholic fatty liver disease. These findings are significant as they mark one of the first instances where genetic variants have been linked to an increased risk of obesity that specifically manifests in adulthood.

The researchers behind the study believe that the Bassoon and APBA1 genes impact obesity by affecting the transmission of signals through brain cells, which could lead to damage in the connections between cells that control appetite as the brain ages. This is a new biological mechanism for obesity that was previously unknown, as other studied variants have primarily focused on the leptin-melanocortin pathway involved in hunger regulation. The role of these genes in diseases that lead to brain degeneration, such as Alzheimer’s and multiple systems atrophy, suggests a potential link to obesity through their impact on brain cells.

Giles Yeo, study author and program lead at Cambridge University’s Metabolic Research Council, highlighted the novel perspective this study offers on the relationship between genetics, neurodevelopment, and obesity. This new understanding could shed light on potential targets for interventions to address obesity, which affects an estimated one billion people worldwide. The study also found that these genetic variants were not associated with childhood obesity, further emphasizing the unique contribution of these genes to adult-onset obesity.

Obesity is a significant public health concern, with excess weight or obesity increasing the risk of death by up to 91% and contributing to a range of serious diseases such as type 2 diabetes, heart disease, and cancer. While environmental factors like fast food consumption play a primary role in weight gain, genetic variants also play a part in around 7% of severe childhood obesity cases. Understanding the genetic underpinnings of obesity can help identify individuals at risk and inform targeted interventions to address this growing global health issue.

The identification of these genetic variants associated with adult obesity represents a significant advancement in our understanding of the complex interplay between genetics, neurodevelopment, and obesity. By uncovering new genetic pathways that contribute to obesity, researchers can work towards developing more effective strategies for prevention and treatment. With obesity rates on the rise globally, it is crucial to continue exploring the genetic and environmental factors that influence this epidemic and to develop comprehensive approaches to promote healthy weight management and reduce the burden of obesity-related diseases.

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