Myosin Storage Myopathy: A Genetic Analysis

In class, we’ve talked about the myosin when seeing the microfilament. It is the motor protein of microfilament which moves along it tracks toward the positive end. It is also the major component of skeletal muscle thick filaments and thus, is involved in muscle contraction. The disease that is going to discuss is related to muscle contraction, called Myosin Storage Myopathy (also known as hyaline body myopathy).
The characteristic or symptom of this disease is the weakness of the muscles that does not get worse or the muscles become much weaker as the time goes by. What Armel and Leslie find out is that it’s the mutation in the MYH7 gene that causes this myosin storage myopathy. Since it’s linked to the gene, it’s a congenital myopathy and can be linked to 4 mutations in -Myosin heavy chain, -MyHC (MYH7). To be specific, this -Myosin heavy chain is the main component of the thick filament in the structures of muscle cells, which is called sarcomeres. Sarcomeres are the basic units involved in muscle contraction. Each mutation corresponds to different molecular phenotype, indicating that there are different mechanisms can lead to this disease. And each MSM is associated with 1 of 4 mutations.
We know that it is a multistep process for the assembly of muscle filaments because it needs both the proper folding of -helices into coiled-coils, and the assembly of …show more content…
But some people affected people show symptoms until adulthood. Due to the weakness of muscles, patients will start walking later than normal ones and may present as waddling gait. Patients also will have difficulty in climbing stairs and it’s hard for them to lift their arms above the shoulder level. Serious muscle weakness can lead to difficulty breathing for affected individuals since they cannot breathe on their own, their muscle does not have the ability to contract and breathe in and breathe