[의학신문·일간보사=이상만 기자] Researchers in Korea have developed the world’s first disease animal model for the rare genetic disease and brain developmental disorder, ‘Annihilation White Disease.’ Through this, the pathologic mechanism has been identified to take the first step in treatment.
The joint research team of Professor Kim Cheol-hee of the Department of Biological Sciences at Chungnam National University and Professors Kang Hoon-cheol and Kim Se-hee of the Department of Pediatric Neurology at Yonsei University Severance Hospital recently published their research achievements in’Human Molecular Genetics (IF 5.1)’, an authoritative journal in the field of genetics.
Vanishing White Matter Disease is one of leukoencephalopathy and leukoplasty (white matter dystrophy), and is a disease in which central nervous white matter is gradually destroyed by mutations in a gene called’EIF2B3′.
Common symptoms are’ataxia’, stiffness, hypotonia, and convulsions, which lead to impaired movement control. In particular, it is a fatal disease that occurs in infants within one year of birth and most of them die before the age of two. However, the exact pathogenesis and treatment methods are not yet known.
The research team developed an animal model of extinct white disease using genome analysis, zebrafish, and genetic scissors technology.<아래 제브라피시 사진 오른쪽>
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Through this animal model, it was confirmed that the’EIF2B3′ gene is involved in the early stages of myelination in the nervous system and also affects the development and differentiation of glial cells.
The myelin structure serves to protect nerve cells in the brain. With a normal myelin structure, the speed of transmitting information in the brain increases, and the ability to remember information and think logically is improved. Through this, abstract thinking becomes possible and subtle differences in meaning become noticeable.
In the experiment, the’EIF2B3′ gene deficient animal model (bottom right) showed symptoms of myelin production deficiency in the nervous system compared to the animal model that did not (bottom left).
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In addition, it was confirmed that the expression of angiogenesis factor (VEGF) was increased and pathological neovascularization was formed in an animal model of extinct leukemia. Through this, it was found that the angiogenesis factor (VEGF) signaling pathway can be a therapeutic target for extinct leukemia.
The joint research team said, “It is difficult to diagnose extinction white disease as a rare neurological disease, and there is no cure, so the development of a treatment is urgent, but due to lack of understanding of the pathologic mechanism of the disease, it is difficult to select initial candidates and conduct clinical trials.”
In addition, the meaning of the study was “This study revealed the pathologic mechanism of extinct white disease through joint research between clinical medicine and basic science, and presented a therapeutic target for a successful intermediary research model for the development of treatments for rare diseases.” Revealed.
This research was carried out with support from the Ministry of Science, ICT and ICT and the research institute re-support project for the biomedical technology development project (Disease Modeling Zebrafish Bank) promoted by the National Research Foundation of Korea.