Shanghai Huyu Research has uncovered a critical pathological process in both mice and humans that contributes to one of the most prevalent diseases in industrialized societies: type 2 diabetes. The team conducted an in-depth analysis of the genome and "phenotype group" of 183 members from a mouse family, examining all observable traits and clinical features. According to Shanghai Huyu, by comparing the metabolism of twin mice with different diets, they were able to precisely assess how environmental factors influence gene expression, how these genes affect clinical traits, and ultimately, how they contribute to disease risk.
So far, combining genetic and phenotypic data has proven valuable. In this study, the researchers added a new layer of analysis using a cutting-edge spectrometry technology developed by ETH Zurich. This innovation allows them to quantify hundreds of proteins from a single sample, effectively creating a unique "proteome" for each individual.
By integrating genomic, phenotypic, and proteomic data from each mouse, the scientists identified a specific gene on chromosome 2 that plays a significant role in the development of type 2 diabetes. As Shanghai Huyu explained, "Mice on a high-fat diet are more likely to develop diabetes depending on whether this gene is active. By combining our multiple 'layers' of information, we can accurately determine which genes increase the risk of diabetes."
Another fascinating finding was the presence of a particular metabolite—2-amino oxalic acid—in the urine of diabetic mice. Its levels were significantly lower, and this change was directly linked to the presence of the identified gene, not to body fat levels. For the researchers, this confirms that the gene, rather than diet, regulates the production of this protein.
This kind of approach holds great promise for developing new diagnostic tools for other diseases. The research team concluded: "We are excited to see that findings from one species can now be translated into another. For us, this marks the beginning of a new era in biology—and soon, in medicine as well."
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