Researchers at the École Polytechnique Fédérale de Lausanne (EPFL) have made significant strides in understanding metabolic health by developing a metabolic health score (MHS) based on clinical parameters using a genetically diverse mouse population known as ‘BXD.’ This breakthrough may provide valuable insights for human studies.

The study, published in Cell Systems, focused on metabolic syndrome (MetS), a condition characterized by high blood pressure, high blood sugar, unhealthy cholesterol levels, and abdominal fat, which increase the risk of heart disease and type 2 diabetes.

Using 49 strains of BXD mice fed different diets, researchers measured key health indicators such as body fat percentage, blood sugar levels, triglycerides, cholesterol, and insulin levels. The resulting MHS served as a tool to assess metabolic health, with higher scores indicating better health.

Through advanced genetic mapping techniques, researchers identified specific genetic regions on chromosomes 7 and 8 associated with metabolic health in a diet-dependent manner. They also analyzed liver gene expression and plasma lipid profiles to uncover molecular signatures linked to MHS.

Moreover, the study highlighted the genetic influence on metabolic health, emphasizing the importance of genes such as TNKS and MCPH1 in regulating metabolic traits. These findings were consistent across different groups of mice, underscoring the genetic basis of metabolic health.

This research not only sheds light on the genetic underpinnings of metabolic health but also offers a potential blueprint for future studies in humans. By utilizing BXD mice as a genetic reference population, researchers have paved the way for a deeper understanding of how genetics impact metabolic conditions, potentially leading to novel therapeutic approaches.