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전익현(약리학교실) Sci Rep
등록일 : 2017-08-31 오전 10:12:00       조회 : 123
첨   부 :
제1저자 전익현(약리학교실, BK 졸업/안과학교실)
교신저자 김응권(안과학교실)

Sci Rep. 2017 Aug 22ɕ(1):9146. doi: 10.1038/s41598-017-09629-9.

Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy.

Jun I1,2,3, Lee JS3, Lee JH1, Lee CS1, Choi SI2, Gee HY3, Lee MG3, Kim EK4,5,6.

Author information

1The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.2Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea.3Department of Pharmacology and Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Korea.4The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea. eungkkim@yuhs.ac.5Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea. eungkkim@yuhs.ac.6Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, Korea. eungkkim@yuhs.ac.
Abstract

Adult-onset vitelliform macular dystrophy (AVMD) is a common and benign macular degeneration which can be caused by BEST1 mutation. Here, we investigated the clinical characteristics associated with a newly identified BEST1 mutation, p.Ile38Ser and confirmed the associated physiological functional defects. The 51-year-old patient presented bilateral small subretinal yellow deposits. Consistent with AVMD, the corresponding lesions showed hyperautofluorescence, late staining in fluorescein angiography, and subretinal hyper-reflective materials in spectral-domain optical coherence tomography. Genetic analysis demonstrated that the patient presented with a heterozygous p.Ile38Ser BEST1 mutation. Surface biotinylation and patch clamp experiments were performed in transfected HEK293T cells. Although, the identified BEST1 mutant maintains normal membrane expression, p.Ile38Ser mutant showed significantly smaller currents than wild type (WT). However, it showed larger currents than other BEST1 mutants, p.Trp93Cys, causing autosomal dominant best vitelliform macular dystrophy (BVMD), and p.Ala195Val, causing autosomal recessive bestrophinopathy (ARB). The cells expressing both WT and each BEST1 mutant showed that the functional defect of p.Ile38ser was milder than that of p.Trp93Cys, whereas combination of p.Ala195Val with WT showed good current. We identified and described the phenotype and in vitro functions of a novel BEST1 mutation causing AVMD. AVMD induced by p.Ile38Ser BEST1 mutation is a mild form of BVMD.
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