NeuRoLab

Desmin is an intermediate filament protein of muscle cells. With its fiber-like three-dimensional structure, it plays a fundamental role in the structure and function of myofibrils, the position of organelles in the cell and signal transduction. DES mutations affect protein-protein interactions, the signaling cascade in the cell, mitochondrial function and protein quality control mechanisms.

LGMD2R, an ultra-rare autosomal recessive inherited LGMD2R caused by a splicing mutation in the tail domain of DES, was identified in previous studies of our group. Although the expression level of mutant desmin is the same in patients compared to healthy individuals, patients carrying the DES c.1289-2A>G mutation develop a muscle degeneration later in life. The mutation affects the interaction of desmin with lamin B, which functions in the nucleus. The mechanotransduction defect caused by the desmin mutation prevents the transmission of mechanical signals from the cytoplasm to the nucleus and leads to muscle degeneration over a long period of time due to the inability of muscle cells to respond adequately to mechanical loading.

In mechanobiology studies, it is essential to use a membrane tension-based cell stretching device that can mechanically load the cell in a direct, controlled and homogeneous manner. These devices are quite expensive and there is no local equivalent. This device, which is necessary to create mechanical stress in cells, is being developed under the TUBITAK 1005 project titled Development of a High Performance Cell Stretching Device (Project no: 120E472) under the supervision of Prof. Dr. Pervin Dincer.

Within the scope of this project, it is necessary to provide a plasma cleaner (plasma surface cleaning) device for plasma application to PDMS membranes in order to attach cells to the membranes and create a cell stretching device in the device we developed within the scope of TUBITAK project. With the supply of this device, the cell stretching device will become usable. Following this, the standardization of the device produced within the scope of the 1005 project will be completed.