PMC:3480677 / 1616-3560
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/3480677","sourcedb":"PMC","sourceid":"3480677","source_url":"https://www.ncbi.nlm.nih.gov/pmc/3480677","text":"Introduction\nThe SCN5A gene, encoding a voltage-gated Na+ channel, is predominately expressed in the heart, where it has a key role in the generation and propagation of the cardiac impulse [1].\nVoltage-gated Na+ channels are transmembrane proteins that produce the fast inward Na+ current responsible for the depolarization phase of the cardiac action potential. Inherited variations in SCN5A, the gene encoding the pore-forming α-subunit of the cardiac-type Na+ channel (Nav1.5), result in a spectrum of disease entities, termed Na+ channelopathies.\nIn many previous studies, lots of variations of the SCN5A gene have been observed in various cardiac diseases, such as long-QT syndrome (LQT), Brugada syndrome (Brs), progressive cardiac conduction defect, atrial fibrillation (AF), dilated cardiomyopathy, and overlapping syndromes [2, 3].\nRecently, cardiac conduction system disease, manifesting as slower intramyocardial conduction and, in some cases, atrioventricular conduction block (AVB), has been related to SCN5A mutation [4]. Familial AVB, characterized by progressive \"degree of block\" in association with variable apparent \"site of block,\" may be transmitted as an autosomal dominant trait. Two genetically distinct forms of AVB have been identified [5]. Brink et al. [6] established a genetic link between AVB and a genetic locus at chromosome 19q13, and Schott et al. [4] mapped AVB to chromosome 3p21.\nSuch genetic variations in AVB patients have been widely studied in Caucasians, Han Chinese, and Japanese, but no study has yet been published in Koreans as far we know. Therefore, we carried out a complete sequencing of coding regions of the SCN5A gene, except the untranslated region, in Korean AVB patients to investigate the SCN5A variations associated with AVB and compared them with normal control subjects. This is the first study of SCN5A genetic variations that examined all coding regions in Korean patients with AVB.","divisions":[{"label":"Title","span":{"begin":0,"end":12}}],"tracks":[{"project":"2_test","denotations":[{"id":"23105938-11239848-44845433","span":{"begin":190,"end":191},"obj":"11239848"},{"id":"23105938-12650874-44845434","span":{"begin":837,"end":838},"obj":"12650874"},{"id":"23105938-10471492-44845435","span":{"begin":1032,"end":1033},"obj":"10471492"},{"id":"23105938-7882468-44845436","span":{"begin":1281,"end":1282},"obj":"7882468"},{"id":"23105938-10471492-44845437","span":{"begin":1383,"end":1384},"obj":"10471492"}],"attributes":[{"subj":"23105938-11239848-44845433","pred":"source","obj":"2_test"},{"subj":"23105938-12650874-44845434","pred":"source","obj":"2_test"},{"subj":"23105938-10471492-44845435","pred":"source","obj":"2_test"},{"subj":"23105938-7882468-44845436","pred":"source","obj":"2_test"},{"subj":"23105938-10471492-44845437","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#eca993","default":true}]}]}}