Professor Sung-Gyoo Park's research team discovers

customized treatment for an extremely rare inflammatory disease

□ Korea Institute of Health Promotion (President Young-chan Lee) said that researchers in Korea have identified the cause of symptoms in patients with a rare inflammatory disease and have customized medication to treat and improve the symptoms.

 

 ○ This research was supported by the National Research Foundation and GIST's Cell Logistics Research Center. The research was conducted by GIST Professor Sung-Gyoo Park in collaboration with Professor Dong-in Seo of the Seoul National University Hospital.

 

The results of the study entitled "Tofacitinib relieves symptoms of stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173" were published on January 2, 2017, in the Journal of Allergy and Clinical Immunology, which is an authoritative journal in the field of medical science.

This study was conducted to identify the exact cause of symptoms in patients suffering from inflammatory diseases, including skin diseases, pulmonary diseases, and cerebrovascular diseases having unknown causes.

Until the present study, treatments for symptoms were performed without knowing the exact cause.

In the case of rare inflammatory diseases, the genetic problems associated with previously reported mutation genes were searched to find the cause of the disease, but in some cases the genetic problems related to the patient cannot be found.

In addition, both parents have a normal immune system, and there are cases in which there are no family history of genetic diseases in which both paternal and maternal patients have the same disease as the patient.

In this study, the researchers analyzed the total nucleotide sequence of the patient's parents and of the patients to identify what is causing the unexplained inflammatory disease in patients lacking prior family history.

As a result, the researchers found that the cause of the unknown inflammatory disease is STING, which is a protein that plays a role in inducing immune activation when an intracellular pathogen infects the body. It was confirmed that a specific base pair of RNA was replaced with another base or base pair: TMEM173.

 ○ This mutant gene causes STING to induce an excessive immune response even when there is no pathogenic infection within the body.

The study consistently analyzed the function of the mutant gene and found a customized drug treatment (tofacitinib) and confirmed that the patients' symptoms improved after the drug was administered.

 

 ○ Professor Sung-Gyoo Park said, "The point of this research was to identify the cause of symptom in patients with hyperparathyroidism and to suggest a therapeutic agent through a drug repurposing and repositioning strategy based on the mechanism of the cause."

 ○ In addition, Professor Park added, "Ultimately, we have laid the groundwork for the development of therapeutic strategies for the treatment of unexplained immune diseases, and we present a model that shows how precision medicine can be used effectively in the treatment of rare diseases. The importance of genomic research in the field of rare diseases and the subsequent implementation of precision medical care is of tremendous significance and value."