Seoul National University Bundang Hospital Research Team Discovers Gene Mutation Pattern Causing 'Hereditary Lymphedema'

Plastic Surgery Professors Myung Yoo-jin and Su-yeon Seo's Team
High Frequency of 'CELSR1' Gene Found in Korean Patients
Occurs Throughout the Body and Has a High Incidence After Adulthood

Professor Myung Yoo-jin (left), Department of Plastic Surgery, Seoul National University Bundang Hospital, and Professor Seo Soo-hyun, Department of Laboratory Medicine.

[Asia Economy Reporter Lee Gwan-joo] Domestic researchers have discovered a gene mutation pattern that causes hereditary lymphedema (primary lymphedema).

Professor Myung Yoo-jin of the Department of Plastic Surgery and Professor Seo Soo-yeon of the Department of Laboratory Medicine at Bundang Seoul National University Hospital announced on the 14th that their research team reported to the academic community a unique gene mutation pattern found in domestic hereditary lymphedema patients and the disease characteristics of Korean patients.

The lymphatic system is called the body's second circulatory system, responsible for the production and circulation of lymphocytes, which form the immune system, as well as transporting nutrients from the digestive tract and large particle wastes. Lymphedema is a condition in which damage to the lymphatic system causes lymph fluid to accumulate in the subcutaneous tissue, resulting in abnormal swelling of the skin.

Among these, hereditary lymphedema is a rare disease occurring in about 1 in 6,000 people. The swollen area does not heal well even from minor wounds, and severe dryness or a hard, rough texture like wood may develop. If left untreated, it can progress to sepsis, skin abscesses, ulcers, and necrosis, making early treatment very important; however, no gene therapy has yet been developed to address the fundamental cause. Most existing studies have been conducted on Western populations.

The research team conducted next-generation sequencing (NGS) and radiology and nuclear medicine examinations on 27 hereditary lymphedema patients treated at Bundang Seoul National University Hospital. As a result, the 'CELSR1' gene, which was rarely mentioned in studies on Western patients, was found at a high rate. They also identified a unique pattern where the mutation of this gene, which was singular on the maternal side, appeared as two types in the offspring.

Additionally, compared to Westerners, they reported that swelling often appears throughout the body rather than in specific areas, and the incidence after adulthood is higher. While hereditary lymphedema is generally known to cause swelling mainly in the legs and to develop primarily at birth, more Korean patients do not follow this pattern.

Professor Myung said, "Although there is currently no cure for hereditary lymphedema, starting various treatments early to alleviate symptoms can significantly improve patients' quality of life in the long term. We expect that follow-up studies on hereditary lymphedema in Koreans will identify the genetic causes of the disease and establish fundamental treatment methods."

The results of this study were published in 'Scientific Reports,' a sister journal of the world-renowned scientific journal Nature.

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