The prevalence of type 2 diabetes, known as adult-onset disease, in people under the age of 20 is increasing. Looking at data from the Health Insurance Review and Evaluation Service, the number of patients under 20 diagnosed with diabetes in 2022 is 13,918, an increase of approximately 26% compared to 2018 (11,061). While the number of patients with type 2 diabetes in children and adolescents is increasing, the results of a study that confirmed for the first time that type 2 diabetes in children and adolescents has genetic characteristics are attracting attention. different from those of adults.
Results of the world’s largest genome analysis of type 2 diabetes in children and adolescents announced | Source: Getty Image Bank
Type 2 diabetes in children and adolescents has different genetic characteristics than in adults
On the 28th, a joint research team including Professor Sooheon Kwak of Seoul National University Hospital and Professor Jason Planik of Boston Children’s Hospital, as well as Harvard and MIT, announced the results of a study that analyzed the genomes of 3,005 children and adolescents with type 2 diabetes and identified their genetic characteristics.
Type 2 diabetes is a disease in which the ability to control blood sugar decreases and the blood glucose concentration becomes higher than normal. The longer the period of the disease, the more difficult it is to control blood sugar and the risk of complications increases, so caution is needed when the disease occurs in children and adolescents.
Type 2 diabetes is more likely to have a family history in children and adolescents than in adults, so genetic influence is assumed to be greater. Genetic mutations that cause diabetes are △ frequent mutations (common, but with weak genetic influence) △ rare mutations (very rare, but with strong genetic influence) △ rare mutations of monogenic diabetes (rare mutations that cause rare diseases such as monogenic diabetes ). , such as GCK and HNF1A) Variation) can be distinguished.
The research team conducted whole exome sequencing on 12,000 patient and control groups to identify genetic mutations that cause type 2 diabetes in children and adolescents. As a result, 2 out of 10 patients (21.2%) were confirmed to have a causal gene that increased the risk of developing diabetes more than threefold.
Results of the analysis of genetic mutations that cause type 2 diabetes in children and adolescents | Source: Seoul National University Hospital
Among them, the rare variant of monogenic diabetes was 2.4%, meaning that pediatric and adolescent patients with type 2 diabetes suffered from a different type of diabetes. Monogenic diabetes differs from typical type 2 diabetes in that it may be treated with oral medications or may require no treatment at all. Furthermore, rare mutations other than monogenic diabetes were 3.4%, and frequent mutations associated with the development of type 2 diabetes in adults were 12.6%.
Until now, in clinical practice, types of diabetes were classified based on symptoms. However, given the results of this study, the researchers believe that a genetic approach is important for accurate diagnosis and treatment of diabetes.
Genetic mutations have a greater impact on children and adolescents than on adults.
Further analysis results revealed that, even with the same type of genetic mutation, the risk of causing type 2 diabetes is greater in children and adolescents than in adults. The analysis showed that the impact of frequent variants on the development of diabetes is 3.4 times greater in children and adolescents than in adults, while rare variants are 5 times greater. In this regard, the research team explained: “Genetic factors are relatively more important in type 2 diabetes in children and adolescents than in adults, and the importance of rare mutations is particularly high.”
Meanwhile, it has been confirmed that the clinical characteristics of type 2 diabetes in children and adolescents vary depending on the frequency of individual genetic mutations. For example, patients with frequent mutations have shown insulin resistance that accompanies type 2 diabetes in adults. Furthermore, patients with rare mutations were characteristic of having a younger age of onset.
Additionally, genes such as obesity-related MC4R, ATXNL, and insulin secretion-related HNF1A have recently been identified through research as being associated with the development of type 2 diabetes in children and adolescents.
Professor Soo-heon Kwak said: “Through this study, we were able to significantly broaden our understanding of the genetic structure of type 2 diabetes in children and adolescents, which had not been clearly known.” He added: “This genetic approach can be used to treat diseases not only like diabetes but also in other chronic diseases. “It is expected that we will be able to increase understanding,” he said.
This study was published in the latest issue of the international academic journal “Nature Metabolism”.
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