2003 Fiscal Year Final Research Report Summary
Molecular medicine of inherited arrhythmias
| Project/Area Number |
14370225
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Circulatory organs internal medicine
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| Research Institution | Shiga University of Medical Science |
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Principal Investigator |
HORIE Minoru Shiga University of Medical, Science Professor, 医学部, 教授 (90183938)
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| Project Period (FY) |
2002 – 2003
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| Keywords | long QT syndrome / genetic analysis / Andersen syndrome / drug-induced QT prolongation / single nucleotide polymorphism |
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| Research Abstract |
Various mutations of genes coding cardiac ion channels delay the repolarization of the ventricle, thereby causing long QT syndrome (LQTS). LQTS has been classified as congenital and acquired forms. The latter is predisposed by drug, electrolyte abnormality, heart disease, central nerve disease, and metabolic disorder. Congenital LQTS consists of Romano-Ward syndrome (RWS) and Jervell-Lange-Nielsen syndrome (JLNS). The RWS shows autosomal dominant hereditary trait. In contrast, the JLNS shows autosomal recessive trait and is usually associated with congenital deafness. At least five responsible LQTS-related genes are identified to date: KCNQ 1, KCNH2, SCN5A, KCNE1, and KCNE2, thereby allowing us to make a genetic screening and a gene-specific therapy. More recently, another autosomal dominant congenital LQTS has been reported to accompany with periodic paralysis and dysmorphic features (Andersen's syndrome). Nine novel mutations in KCNJ2, coding cardiac inward rectifier potassium channels (Kir2.1), were found to relate with the syndrome. We have conducted extensive genetic analyses on these genes coding ion channels and their associated proteins and identified the disease specific genetic variants. Moreover, we had performed electrophysiological assay to confirm whether the genetic mutations induce the real functional change. Those data have been published as original papers as listed above.
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Research Products
(7 results)
