AI Article Synopsis
- Brugada syndrome is a hereditary heart condition linked to arrhythmias, with SCN5A gene mutations involved in about 15% of cases.
- A study investigated the GPD1L gene for mutations in 80 unrelated Japanese patients, finding one synonymous mutation and one intronic variant not present in the control group.
- The researchers concluded that GPD1L mutations are not a significant cause of Brugada syndrome in the Japanese population, as no non-synonymous mutations were identified.
Article Abstract
Brugada syndrome is an inherited arrhythmic disorder, and mutations in the SCN5A gene, encoding cardiac sodium channels, are identified in approximately 15% of cases. A novel causative gene (glycerol-3 phosphate dehydrogenase-1 like; GPD1L) has been reported, and in the present study, 80 unrelated Japanese patients were screened for GPD1L mutations: 1 synonymous mutation was identified, as well as 1 intronic variant, both of which were absent in 220 control alleles. Additionally, a single-nucleotide polymorphism was detected in 4 patients. No non-synonymous mutations were found. GPD1L does not appear to be a major cause of Brugada syndrome in the Japanese population.
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| http://dx.doi.org/10.1253/circj.cj-08-0508 | DOI Listing |
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