대한의생명과학회지 (Biomedical Science Letters)
- 제12권4호
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- Pages.311-318
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- 2006
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- 1738-3226(pISSN)
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- 2288-7415(eISSN)
The Spectrum of GJB2 Mutations in Korean Patients with Genetic Hearing Loss: a Functional Study and Study of Cell Growth Control by Dominant Type of GJB2 Mutants
- Jin, Hyun-Seok (Division of Genetic Disease, Department of Biomedical Science) ;
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Kim, Jong-Bae
(Department of Biomedical Laboratory Science, College of Health Science, Yonsei University) ;
- Go, Sang-Hee (Division of Genetic Disease, Department of Biomedical Science) ;
- Lee, Mi-Young (Division of Genetic Disease, Department of Biomedical Science) ;
- Jung, Sung-Chul (Department of Biochemisty, College of Medicine, Ewha Women University) ;
- Park, Hyun-Young (Division of Genetic Disease, Department of Biomedical Science) ;
- Park, Hong-Joon (Soree Ear Clinic) ;
- Koo, Soo-Kyung (Division of Genetic Disease, Department of Biomedical Science)
- 발행 : 2006.12.31
초록
The GJB2 mutation is mostly recessive in non-syndromic hearing loss, but specific mutations display a dominant type and syndromic hearing impairment. Both U54K and R75Q mutations present a dominant type in pedigrees with associated skin disorders. The purpose of this study was to investigate whether two GJB2 mutations can exhibit a dominant-negative effect on the growth abrogation and the gap junctional intercellular communication capacity exerted by wild-type connexin 26. A specific mutant region of GJB2 showed a loss of gap junction activity and a dominant negative effect on wild-type GJB2. The two mutants exerted a dominant-negative effect on the GJIC capacity and have independently effected GJB2 regulated growth of Hela cells; however, they have no dominant-negative growth effect on wild-type GJB2. It is proposed that the different mechanisms of the dominant-negative effect on wild-type GJB2 involve cell growth and GJIC function. This study describes mutations found in Korean deaf patients and that are typical of other east Asian regions.