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J Clin Invest. 2006 Feb;116(2):297-9.

SIDS: genetic and environmental influences may cause arrhythmia in this silent killer.

Author information

  • Department of Medicine, Cardiovascular Medicine Section and Department of Physiology, University of Wisconsin, Madison, Wisconsin 53792, USA. jcm@medicine.wisc.edu

Abstract

In this issue of the JCI, Bowers et al. show that the common polymorphism of the cardiac voltage-gated sodium channel, type Valpha (SCN5A), designated S1103Y, found in African Americans is associated with an increased risk of sudden infant death syndrome (SIDS). Wild-type and mutant SCN5A channels both functioned typically under normal conditions in vitro, but exposure to acidic intracellular pH levels such as those found in respiratory acidosis--a known risk factor for SIDS--produced abnormal gain-of-function late reopenings of S1103Y channels, behavior that is often associated with cardiac arrhythmias. These pathologic late reopenings were suppressed by low levels of the channel-blocking drug mexiletine. These findings provide an excellent illustration of a causal relationship between the interaction of the environment and genetic background in SIDS and also raise interesting questions about the linkage of a genetic abnormality with a clinical phenotype.

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PMID:
16453014
[PubMed - indexed for MEDLINE]
PMCID:
PMC1359061
Free PMC Article

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