Key result
D7-des expression triggers desmin aggregation, disrupted myofibrils, and blunted beta-agonist response in mice.
Why the study?
Direct causative evidence that a desmin mutation leads to aberrant intrasarcoplasmic desmin accumulation, aggregation, and cardiomyopathy was lacking.
Does the D7-des mutation cause aberrant intrasarcoplasmic desmin accumulation, aggregation, and cardiomyopathy in a transgenic mouse model?
Population
Transgenic mouse lines expressing murine wild-type desmin or D7-des mutation
Comparison
Expression of D7-des mutation vs expression of wild-type desmin
Design
Preclinical study with multiple transgenic mouse lines
Authors
Loading...
D7-des mouse model advances desmin cardiomyopathy mechanisms; leaves open human translation and targeted therapies.
Does the D7-des mutation cause aberrant intrasarcoplasmic desmin accumulation, aggregation, and cardiomyopathy in a transgenic mouse model?
The D7-des mutation is dominant negative and its expression in mice leads to aggregates characteristic of human desmin-related cardiomyopathy.
Wang et al. (2001) studied Desmin-related cardiomyopathy. D7-des mutation (7-amino acid deletion) vs. Wild-type desmin was evaluated on Cardiac phenotype and desmin aggregation. Expression of the D7-des mutation in mice led to aberrant desmin aggregates, disrupted myofibril alignment, and a blunted cardiac response to beta-agonist stimulation.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: