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Genetic mutations identified in sudden infant death syndrome
Tester DJ. Circ Cardiovasc Genet. 2011;doi:10.1161/circgenetics.111.960195.
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Genetic abnormalities of the KATP channel have been implicated as a pathogenic mechanism in sudden infant death syndrome in a new study.
Sudden infant death syndrome (SIDS) affects infants younger than 1 year and is currently unexplained, despite having a complete autopsy and clinical history review, according to researchers.
To understand the causes of this syndrome better, researchers from the Mayo Clinic, Minn., and the University of Wisconsin-Madison, Wis., performed DNA analysis of 292 SIDS cases (mean age, 2.9 months). The analysis involved the KCNJ8-encoded Kir6.1 (KATP) channel, which regulates vascular tone and cardiac adaptive responsive response to systemic metabolic stressors, isolated from necropsy tissue.
Researchers reported finding two novel KCNJ8 mutations, one an in-frame deletion (E332del) in a 5-month-old white boy and the other a missense mutation (V346I) in a 2-month-old black girl. Both of these mutations, according to researchers, were localized in Kir6.1’s C-terminus, featured conserved residues, were not found in ethnic-matched reference alleles and were negative for mutations in established channelopathic genes.
Specifically, the pinacidil-activated KATP current, when compared with WT channels, was diminished 45% to 68% in the boy and 40% to 57% in the girl.
However, the researchers did write that “whether the mutant KATP channels precipitated a lethal ventricular arrhythmia or a maladaptive cardiac/coronary response to a systemic metabolic stressor remains speculative since KCNJ8 is expressed in multiple tissues including heart, vascular and neuronal tissue.”
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