Desmin

• OMIM: 125660

• MGI: 94885

Desmin ( obsolete name Skeletin ) is a type 3 intermediate filament and thus an element of the cytoskeleton. The Desminfilamente have a diameter of 8-11 nm and a species- dependent molecular mass of 50000-55000 daltons.

Desmin is found in the skeletal, cardiac and smooth muscle. In the cytoplasm of the muscle fibers of the striated muscles, it combines the myofibrils into bundles and the so-called Z- discs of the muscle fibers. The connection between desmin and Z-disks is done by a specific intermediate filament - associated protein, the Synemin.

Clinical Significance

In case of breakdown of the investigating Desminsynthese gene specific muscle diseases ( myopathies ) may occur. For example it is known that mutations in the DES gene can lead to arrhythmogenic right ventricular cardiomyopathy and the so-called Kaeser syndrome. Many desmin mutations lead to dominant aggregate formation in the cytoplasm.

Antibodies against desmin are used in pathology for safe differentiation of certain tumors ( rhabdomyosarcoma, leiomyosarcoma ) from other soft tissue tumors.