EP News: Basic and Translational

Shafaattalab et  al (Proc Natl Acad Sci U S A 2019;116:6969, PMID 30886088) investigated the genetic pathogenesis of sudden unexpected death of infants (SUDI) by sequencing>70 genes from 191 autopsy-negative SUDI victims. A previously unknown variant in troponin I (TnI, TNNI1 R37C+/ −) was identified in 10 infants. The mutation was found in the fetal/neonatal paralog of TnI, a gene expressed in the heart up to the first 24 months of life. TNNI1 R37C mutation was functionally assessed in human reconstituted thin filaments (RTFs) using fluorometry.
Source: Heart Rhythm - Category: Cardiology Authors: Tags: EP News Source Type: research