Mutations in one gene increase the risk of diabetes by 8 times
Researchers at Harvard University and the Massachusetts Institute of Technology have identified 9 genetic variants that increase the risk of developing type 2 diabetes by 8 times. Fortunately, these options are quite rare – in 1 out of 1,000 people.
The PPARG (peroxisome proliferator-activated receptor gamma) gene studied by the authors encodes a gamma receptor activated by the proliferator peroxisome. This protein, in addition to many other functions, controls the development of fat cells, and its involvement in the development of diabetes mellitus has been established for about 20 years ago.
Despite this, scanning the genomes of 20,000 people from a variety of populations with different ethnic origins revealed 53 mutations in PPARG, of which only 4 were previously described. Further analysis using computer algorithms and subsequent verification of the data obtained in the laboratory showed that 9 out of 49 new mutations are associated with an increased risk of developing diabetes mellitus 2 like 700%.
The authors believe that this is just the tip of the iceberg. The protein encoded by the PPARG gene consists of 500 amino acids. The composition of human proteins includes 20 types of amino acids, so theoretically it is possible to replace 19 options for each of the 500 links of the amino acid chain of the protein in question. In other words, the protein can undergo almost 10,000 different mutations, which indicates the possibility of the existence of unknown genetic variants that affect the risk of developing diabetes.
In the future, the researchers plan to develop computer algorithms that will allow to determine with a high degree of accuracy the mutations of the PPARG gene associated with predisposition to type 2 diabetes mellitus. The ultimate goal of the work is to compile a complete catalog of potentially dangerous mutations, which clinicians will be able to use when consulting patients.
Article by Amit R. Majithia et al. Rare variations in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes published in the journal Proceedings of the National Academy of Sciences.
Evgeniya Ryabtseva
Portal "Eternal youth" http://vechnayamolodost.ru based on materials from Harvard University:
Diabetes’ genetic variety. Researchers find nine variants that can greatly increase risk from disease.
18.09.2014