What is smooth muscle desmin?
Desmin filaments are mainly located at the periphery of Z-disk of striated muscles and at the dense bodies of smooth muscle cells, and they have been postulated to play a critical role in the maintenance of structural and mechanical integrity of the contractile apparatus in muscle tissues.
What is desmin in muscle?
Desmin is a myofibrillar protein that is the chief intermediate filament of skeletal and cardiac muscle [40]. It maintains the structural and functional integrity of the myofibrils and functions as a cytoskeletal protein linking Z bands to the plasma membrane. Mutations in the desmin gene may cause RCM.
What does desmin protein do?
Normal Function The desmin proteins surround rod-like structures called Z-discs that are located within the sarcomere. Desmin connects the Z-discs to one another, linking neighboring sarcomeres and forming myofibrils, the basic unit of muscle fibers.
What is the meaning of desmin?
Desmin is a protein that in humans is encoded by the DES gene. Desmin is a muscle-specific, type III intermediate filament that integrates the sarcolemma, Z disk, and nuclear membrane in sarcomeres and regulates sarcomere architecture.
What is desmin myopathy?
Desmin myopathy is a recently identified disease associated with mutations in desmin or alphaB-crystallin. Typically, the illness presents with lower limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial, bulbar and respiratory muscles.
What medication is used for myopathy?
Drugs used to treat Myopathy
| Drug name | Rating |
|---|---|
| View information about azathioprine azathioprine Off-label | Rate |
| Generic name: azathioprine systemic Drug class: antirheumatics, other immunosuppressants For consumers: dosage, interactions, side effects For professionals: AHFS DI Monograph, Prescribing Information Off-label: Yes |