KIOM discovers biomarkers for early prediction of metabolic syndrome
Use of epigenomic information expected to improve prediction and treatment of metabolic syndrome in Korean medicine
□ Dr. Jin Hui-jeong’s research team at the KM Data Division of the Korea Institute of Oriental Medicine (KIOM / president: Lee Jin-Yong) discovered epigenome* biomarkers that can facilitate the prediction of metabolic syndrome.
※ Epigenome: The entire combination of data on genome sequence changes due to self-modulation, aging or environment. Genes are modulated and their actions are determined without the changes in the DNA sequence.
？ The research outcome was published in Genes & Disease (IF=7.1), a leading international academic journal.
□ Metabolic syndrome is a complex disease related to cardiovascular disease, glycosemia, dyslipidemia, obesity, etc., and characteristically its prevention is as important as the development of therapeutic agents to counter it.
？ The global prevalence rate of metabolic syndrome is 10 to 40%, and in Korea, it increased from 21.6% in 2007 to 22.9% in 2018.
？ The cause of metabolic syndrome is not certain, but not only genetic factors but also life habits such as inappropriate diets and lack of exercise are known to contribute to the occurrence of the disease.
□ Until the present, the research for finding biomarkers to predict the disease was focused on the identification of the difference in the gene sequences of metabolic syndrome patients and healthy people.
？ Recently, studies exploring epigenome biomarkers while considering the influence of environment and life habits have emerged.
？ Concerning metabolic syndrome, there has been reports on biomarkers based on genetic variation or gene expression data, but the new research is differentiated because it explores overall genome with a focus on DNA methylation* to discover markers with high predictability.
※DNA methylation is a process by which methyl group are added to the DNA molecule, and it is an epigenomic mechanism that modulates gene expression without any change in the DNA sequence. DNA methylation is related to gene expression and thus associated with the occurrence of diseases.
□ The research team carried out profiling of peripheral blood samples of metabolic disease patients and healthy individuals from the Daejeon Citizen Cohort* to identify epigenomic changes, and discovered 36 genes related to metabolic syndrome.
※ Cohort study means prospective longitudinal study. It is a research method of following a group exposed to a certain factor and another group that's not exposed to it, comparing the disease occurrence rates of the two groups and studying the relationship between the factor and the occurrence of the disease. The Daejeon Citizen Cohort currently consists of more than 4,000 residents of the city, and it is the largest cohort for the study on the impact of physical constitutions and life habits to chronic diseases in the field of Korean medicine.
？ The result of the examination of the area under curve (AUC)* for the metabolic syndrome prediction of candidate biomarkers among the 36 genes showed that the GFPT2 gene is the epigenome biomarker for metabolic syndrome (AUC=0.879), and this was verified using a new sample that was not used for an analysis before.
※AUC (Area Under Curve) is an indicator for the accuracy of a classification model, and the prediction is deemed more accurate as the values gets closer to 1.
※GFPT2 (Glutamine-fructose-6-phosphate transaminase 2) gene is a gene that encodes GFPT2, the first rate-limiting enzyme; modulates the biosynthesis pathway of hexosamine; and is related to type 2 diabetes and diabetic neuropathy. It has not been reported as a marker that directly predicts metabolic syndrome until now.
□ Dr. Jin, a corresponding author of the research paper, said, “We scientifically proved that epigenomic information can be used as biomarkers of metabolic syndrome. In the future, we will continue to use the Daejeon Citizen Cohort to integrate information on Korean medicine closely related to metabolic syndrome, such as physical constitutions and cold-heat pattern identification, and this is expected to enhance the value of metabolic syndrome treatment based on Korean medicine.”
□ President Lee Jin-Yong of KIOM commented, “As there is no fundamental treatment method for metabolic syndrome, prediction for its prevention is necessary along with the development of therapeutic agents. The result of the recent study can prevent the prediction of metabolic syndrome, and we will work on leading it toward the development of a disease prevention management program in Korean medicine that the public can benefit from.”
□ The research was conducted as a major program of KIOM, an affiliate of the Ministry of Science and ICT.