DES (desmin)

Polyclonal antibody produced in rabbits immunized with a synthetic peptide corresponding to a region of Human DES.

Suggested starting concentrations are provided. Optimal dilutions should be determined by end-user. Differences in calculated versus apparent molecular weight may be due to post-translational modifications or protein hydrophobicity. DES is a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in its gene are associated with desmin-rela

Homopolymer.

Defects in DES are the cause of desmin-related cardio-skeletal myopathy (CSM) [MIM:601419]; also known as desmin-related myopathy (DRM). CSM is characterized by skeletal muscle weakness associated with cardiac conduction blocks arrhythmias restrictive heart failure and by intracytoplasmic accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. A desmin-related myopathy can have a distal onset it is then known as hereditary distal myopathy (HDM).

Defects in DES are the cause of neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]. Kaeser syndrome is an autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical myofibrillar changes with accumulation of desmin.