SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

Article Abstract:

A study of the mutation involved in inherited cardiac arrhythmia through genotypic analyses reveals that the SCN5A mutations are linked to LQT3 in three families. SCN5A is the gene that encodes the cardiac sodium channel. Similar intragenic deletions of SCN5A are observed through DNA sequence analyses and single strand conformation polymorphism in members of two unrelated families. A region that is essential for channel inactivation houses the mutations, indicating a possible cellular pathway for chromosome-3-linked LQT.

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A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

Article Abstract:

A study of patients with long QT syndrome (LQT) to delineate the gene participating in cardiac arrhythmia through linkage and physical mapping reveals that LQT2 and HERG, a potassium channel gene are located on 7q35-36. DNA sequence analysis and single strand conformation polymorphism reveal that six LQT families exhibit mutations that include two intragenic deletions, three missense mutations and a splice-donor mutation. Significant HERG expression is observed in the heart through Northern blot analysis.

Observations, Chromosome mapping

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MiRP1 forms I(sub kr) potassium channels with HERG and is associated with cardiac arrhythmia

Article Abstract:

A potassium channel gene that uses MinK-related peptide 1 (MiRP1) to modify its function is cloned and characterized. This gene, which possesses three missense mutations that are linked to the occurrence of ventricular fibrillation and the long QT syndrome, resembles native I(sub kr) channels in four ways: it is regulated by potassium, displays unitary conductance, exhibits biphasic inhibition by the class III antiarrhythmic E-4031 and has similar gating structure.

Research, Gene mutations, Gene mutation, Membrane proteins, Potassium channels, Arrhythmia

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