HCM is inherited as a mendelian autosomal dominant trait and caused by mutations in any one of 11 genes, each encoding proteins of the cardiac sarcomere. It has an incidence of 1 in 500 of the general ...

Another project in the lab seeks to identify additional possible molecules that help to arrange and maintain the appropriate myosin heavy chain protein shape and aid its incorporation into the ...

The initial proof of concept studies in human heart cells and engineered heart tissue showed that the gene-vector-promoter construct corrects MyBP-C protein levels/expression in the sarcomere and ...

Illustration of the interacting thick and thin filaments in the cardiac sarcomere based on structural cryo electron-tomography data. Credit MPI of Molecular Physiology ...

In the cardiovascular system, AS of transcripts of sarcomere, ion channel, and cell signaling protein genes, as well as long ...

and an increased risk of sudden cardiac death. It is caused by mutations in sarcomere protein genes, leading to altered cell metabolism, including oxidative stress and mitochondrial dysfunction.