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FEBRUARY 9, 2021 // -- In a recent study published in the international journal Cell Metabolism, scientists from mitbod institutes and others have developed a new way to study gene function that may help reveal the link between high blood sugar and bone density in diabetics.
Now researchers have found that thousands of genetic mutations (small changes in genetic code) are directly related to an increased risk of multiple diseases, and that clarifying the role these mutations play in the body may translate genetic insights into new, accurate disease therapies.
the study, the researchers designed a new technique called the V2F Framework (Mutation-Functional Framework, Variant-to-Function Framework), which may help effectively resolve the function of genetic mutations, especially the multi-effect mutations (pleiotropic variants), which affect multiple characteristics of the body.
Researchers used this framework to find a special genetic link that could help explain why people with type 2 diabetes are more prone to fractures, and found that mutations in chromosome 3 increase the risk of high blood sugar and bone density in patients with type 2 diabetes, both of which are the most common symptoms in people with type 2 diabetes, and to clarify the molecular mechanisms by which the mutation functions.
Photo Source: CC0 Public Domain researcher Melina Klausnitzer says this special framework allows us to learn more about the genetic risk spots that are more effective, and in 2015 researchers developed the V2F toolbox, which they now use for the first time to shed light on the biological mechanisms behind the multi-effect mutation, while also revealing the biological link between other disease symptoms and providing new clues to the development of new therapies or new clues.
Researchers identified specific genetic mutations that promote the body's high blood sugar and fracture risk by analyzing data in genome-wide association studies that focused on diabetes and bone characteristics, and found that genetic mutations in non-coding areas of the ADCY5 gene or involvement in lipid metabolism reduced gene expression, causing metabolic problems in fat cells and bone cells, and that metabolic abnormalities in fat cells led to high blood sugar and high bone density in bone cells.
that reverses the effects of mutants may potentially treat the symptoms of the disease and higher bone density in people with type 2 diabetes, said Researcher Clarksnitzer.
Researchers are currently optimizing this mutation-functional methodology to find more mutants and clarify their interactions with each other;
() Original source: Nasa Sinnott-Armstrong, Isabel S. Sousa, Samantha Laber, et al. A regulatory variant at 3q21.1 confers an increased pleiotropic risk for hyperglycemia and altered bone mineral density, Cell Metabolism (2021). DOI:10.1016/j.cmet.2021.01.001