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SNUH finds diabetes gene mutation specific to Koreans
  • By Lee Han-soo
  • Published 2018.09.04 15:52
  • Updated 2018.09.04 15:52
  • comments 0
Professors Kwak Soo-heon (left) and Professor Park Kyung-soo

Researchers at Seoul National University Hospital have discovered a gene mutation that is specific to Korean diabetic patients, the hospital said Tuesday.

The research team, led by Professors Kwak Soo-heon and Park Kyung-soo of the department of endocrinology at the hospital, analyzed 7,850 Koreans with diabetes and 9,215 Koreans with normal blood glucose levels from 2012 to 2017.

The researchers identified a genetic variation of 730,000 genes through next-generation sequencing and focused on the mutation that changes the amino acid sequence of the protein.

Proteins are composed of extended amino acid sequence structures. When a gene mutation occurs, some modifications may occur in the amino acid sequence structure of the protein produced by the genetic information. In such cases, the structure and actions of the normal protein malfunction, which in turn leads to various chronic diseases and degenerative diseases such as diabetes, dementia and cancer.

The team found that mutations in the paired box 4 (PAX4) gene, which is the pancreatic beta cell that secretes insulin, and glucagon-like peptide 1 receptor (GLP1R) gene, an incretin hormone receptor, are essential for the development of diabetes in Koreans.

When the PAX4 192 codon substituted its arginine with either histidine or serine, the risk of diabetes increased about 1.5 times. The frequency of this mutation was 8 percent for histidine and 4 percent for serine in Koreans. However, such mutations did not occur in any Europeans.

When the GLP1R 131 codon replaced its glutamine with arginine, the risk of diabetes fell 0.86 times. Although the researchers confirmed the mutation in 21.1 percent of Koreans, the change did not appear in Europeans.

Also, among patients with diabetes, the age of diabetes onset was low when the PAX4 gene mutation was present, while the presence of the GLP1R gene mutation resulted in fewer cardiovascular and cerebrovascular diseases.

“The study will advance diabetes prevention and personalized treatment,” Professor Kwak said. “We will soon be able to apply precise medical data of chronic diseases such as to actual clinical sites.”

Professor Park also said, “We discovered a genetic mutation specific to the onset of diabetes in Koreans, thus laying the groundwork for the conquest of diabetes in Koreans.”

The results of the research were published in the September edition of Diabetes.

corea022@docdocdoc.co.kr

<© Korea Biomedical Review, All rights reserved.>

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