Here is a list of things most people with Muscular Dystrophy wish people knew....
For those that are Bored I mean interested lol. in learning more about our particular form of Muscular Dystrophy. Desmin Myofibrillar Myopathy....
What is the official name of the DES gene? The official name of this gene is desmin.
What is the normal function of the DES gene?
The DES gene provides instructions for making a protein called desmin. Desmin is found in heart (cardiac) muscle and muscles used for movement (skeletal muscle). Within muscle fibres, desmin proteins are important to help maintain the structure of sarcomeres, which are necessary for muscles to tense (contract). 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 neighbouring sarcomeres and forming myofibrils, the basic unit of muscle fibres. The connection of sarcomeres to each other to form myofibrils is essential for maintaining muscle fibre strength during repeated cycles of contraction and relaxation.
How are changes in the DES gene related to health conditions?
Myofibrillar myopathy can be caused by mutations in the DES gene Page 2 of 5
More than 40 mutations in the DES gene have been found to cause myofibrillar myopathy. Most of these mutations change single protein building blocks (amino acids) in desmin. Mutated desmin proteins cluster together with other muscle proteins in the sarcomere to form clumps (aggregates). The aggregates prevent these proteins from functioning normally. A dysfunctional desmin protein cannot properly interact with Z-discs, leading to abnormalities of sarcomere structure and problems with the formation of myofibrils. DES gene mutations that cause myofibrillar myopathy impair the function of muscle fibres, causing weakness and the other features of this condition. People with DES gene mutations are more likely to have a weakened heart muscle (cardiomyopathy) than people with myofibrillar myopathy caused by mutations in other genes. In some cases, cardiomyopathy is the first symptom of this condition.