Desmin

GWB-74D3AC

D9

Each vial contains 100 ?l 1 mg/ml purified antibody in PBS containing 10 mM (0. 065%) sodium azide. Desmin (53 kDa) exhibits a high degree of tissue specificity. its expression being predominantly confined to all types of muscle cells (cardiac. skeletal and smooth muscle). Regulation of desmin expression is stage and tissue-specific. since it is induced during terminal development of. for example. skeletal muscle cell differentiation. In skeletal en cardiac muscle cells desmin is localized in the Z-disk region and at the intercalated disk. The expression pattern of desmin in smooth muscle is much more heterogenous. Coexpression of vimentin and desmin has been observed in tumors derived from muscle tissue. i. e. rhabdomyosarcomas and leiomyosarcomas. Furthermore. during myocard dysfunction dramatic changes in the distribution of desmin have been observed.

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.