Correlating Structure and Function in Human Genetic Variants of Phospholamban and Sarcolipin

Abstract

The second area of the cell, where we find changes in organisation are the nuclei. A subset of the nuclei of cardiomyocytes in DCM patient samples display an increased size and an altered composition of their nuclear lamina. This includes disruptions and can also be detected at the ultrastructural level as increased convolution of the nuclear membrane and the appearance of membrane stacks. We propose that the altered mechanical environment caused by the increased amount of extracellular matrix deposition is fed back to the interior of the cell and eventually leads to changes in the nucleoskeleton, which may affect gene transcription.