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Severance finds new gingival fibromatosis diagnostic biomarker
  • By Lee Han-soo
  • Published 2019.06.26 15:31
  • Updated 2019.06.26 15:31
  • comments 0

Researchers at Severance Hospital have found a new biomarker for diagnosing gingival fibromatosis.

Professor Lee Jae-hoon

Gingival fibromatosis is a rare disease, in which in the gums inside the mouth fiberize and expand abnormally. The condition is known as one of the leading causes of oral cancer and results in cosmetic problems.

Notably, gingival fibromatosis regularly reoccurs after surgery because of drugs, and genetic and environmental factors. The frequent reoccurrence has raised the need for a molecular-level therapeutic mechanism. In the case of this rare disease study, however, it is difficult to find the specific biomarker as the number of samples is often insufficient.

To solve this problem, the team, led by Professor Lee Jae-hoon at the hospital and Professor Kim Sang-uk from Pohang University of Science and Technology, succeeded in discovering a new gingival fibroma diagnostic biomarker through a bio-network analysis of a family.

The researchers analyzed genetic information from a family of four, where children suffered from gingival fibromatosis but the parents did not.

Based on the newly developed genomic analysis technique, the team developed a cross-validation method for the simultaneous analysis of gene mutations and RNA changes in each patient.

As a result, the research team succeeded in discovering a specific mutant gene group, the gingival fibroma diagnostic biomarker, which led to changes in the amount of RNA and leads to gingival fibromatosis. Genetic mutations included ETVI, SMAD4, and SOX30.

“This study is meaningful in that it predicts the onset of the disease in patients who are likely to develop gingival fibroma, and provides an opportunity to perform preventive treatment,” Severance Hospital said in a news release. “Furthermore, it can be applied to the discovery of biomarkers of other rare diseases.”

Professor Lee said, “We have secured a diverse group of biomarker genes in the signaling pathway of the SMAD4 gene and the cell-transducing growth factor-beta (TGF-beta) factor important for vital signal transduction.”

The variety of other genes within this signaling pathway can also become an additional biomarker for other diseases, Lee added.

Oral Disease published the results of the study.


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