Key result
The novel pE96K mutation in the TNNT2 gene co-segregated with left ventricular non-compaction in a family and induced impaired left ventricular function in transgenic mice.
Why the study?
Does the pE96K mutation in TNNT2 cause cardiomyopathy and left ventricular non-compaction?
Population
A family with left ventricular non-compaction and 430 healthy control individuals; transgenic mice…
Comparison
Expression of human troponin T harbouring the… vs Expression of human wild-type cTNT in mice…
Design
Preclinical
Authors
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TNNT2 variants support expanded LVNC genetic panels; leaves open primary vs secondary role of non-compaction.
Does the pE96K mutation in TNNT2 cause cardiomyopathy and left ventricular non-compaction?
The novel pE96K mutation in TNNT2 causes cardiomyopathy, but a non-compaction phenotype is not required for the development of cardiomyopathy in this specific mutation.
Luedde et al. (2010) studied Left ventricular non-compaction (LVNC). pE96K mutation in TNNT2 vs. Healthy controls / wild-type cTNT was evaluated on Cardiomyopathy phenotype and left ventricular function. The novel pE96K mutation in the TNNT2 gene co-segregated with left ventricular non-compaction in a family and induced impaired left ventricular function in transgenic mice.
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