지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한약리학회 The Korean Journal of Physiology & Pharmacology The Korean Journal of Physiology & Pharmacology 제21권 제4호
- 발행연도
- 2017.7
- 수록면
- 439 - 447 (9page)
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초록· 키워드
오류제보하기
Myotonia congenita (MC) is a genetic disease that displays impaired relaxation of skeletal muscle and muscle hypertrophy. This disease is mainly caused by mutations of CLCN1 that encodes human skeletal muscle chloride channel (CLC- 1). CLC-1 is a voltage gated chloride channel that activates upon depolarizing potentials and play a major role in stabilization of resting membrane potentials in skeletal muscle. In this study, we report 4 unrelated Korean patients diagnosed with myotonia congenita and their clinical features. Sequence analysis of all coding regions of the patients was performed and mutation, R47W and A298T, was commonly identified. The patients commonly displayed transient muscle weakness and only one patient was diagnosed with autosomal dominant type of myotonia congenita. To investigate the pathological role of the mutation, electrophysiological analysis was also performed in HEK 293 cells transiently expressing homo-or heterodimeric mutant channels. The mutant channels displayed reduced chloride current density and altered channel gating. However, the effect of A298T on channel gating was reduced with the presence of R47W in the same allele. This analysis suggests that impaired CLC-1 channel function can cause myotonia congenita and that R47W has a protective effect on A298T in relation to channel gating. Our results provide clinical features of Korean myotonia congenita patients who have the heterozygous mutation and reveal underlying pathophyological consequences of the mutants by taking electrophysiological approach.
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참고문헌 (24)
참고문헌 신청
Koch MC / 1992 / The skeletal muscle chloride channel in dominant and recessive human myotonia / Science 257:797~800
George AL Jr / 1993 / Molecular basis of Thomsen's disease(autosomal dominant myotonia congenita) / Nat Genet 3:305~310
Wu FF / 2002 / Novel CLCN1 mutations with unique clinical and electrophysiological consequences / Brain 125:2392~2407
Jentsch TJ / 2002 / Molecular structure and physiological function of chloride channels / Physiol Rev 82:503~568
Lorenz C / 1994 / Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia / Hum Mol Genet 3:941~946
George AL Jr / 1993 / Molecular basis of Thomsen's disease(autosomal dominant myotonia congenita) / Nat Genet 3:305~310
Wu FF / 2002 / Novel CLCN1 mutations with unique clinical and electrophysiological consequences / Brain 125:2392~2407
Jentsch TJ / 2002 / Molecular structure and physiological function of chloride channels / Physiol Rev 82:503~568
Lorenz C / 1994 / Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia / Hum Mol Genet 3:941~946
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