Hereditary Disease Muscle Dystrophy

Hereditary disease muscle dystrophy

Introduction

Duchenne’s muscular dystrophy is a recessive hereditary disease linked to X chromosome, it is a disease that regularly only affects men, although women can be carriers or show symptoms. Approximately 33% of children born with Duchenne dystrophy do not have family precedents, this may be because the gene suffers from some spontaneous mutation. This disease appears by mutations in the dystrophin gene. 

Dystrophin is a structural protein found in the cytoplasm of muscle cells and its function is to tie plasma proteins to the cell membrane. Dystrophin loss leads to muscle fibers being transformed into adipose cells. Physiologically muscle fibers have a fusiform and polynucleated type, cell membrane is known as sarcolema and cytosol is known as sarcoplasma. 

Muscle fibers are composed of the union of myofibrils that contain actin and myosin filaments that are responsible for muscle contraction. In the muscle contraction process, troponin is responsible for the displacement of tropomiosine, since it is an inactive protein, with this displacement the actin and myosin can join producing muscle contraction. Calcium has a fundamental role because calcium binds to troponin and this union is the one that provides the displacement of the tropomiosine necessary for the formation of the actin-miosine complex. 

conclusion

Myosin together with ADP+P joins actin and releases energy, once this energy released the ADP+P is separated and an ATP molecule joins that site causing a change of form in myosin making it separate from The actin, the ATP molecule is transformed into ADP+P and causes the union of actin and myosin again, with the repetition of this cycle the muscle contraction occurs.

Creatine kinase (CPK) is an enzyme that is found throughout the body and its function is to transform ADP’s energy to ATP when the muscle contracts. The phosphochinase creatine (CPK 2) is an isoenzyme that is found in the cardiac tissue and its function is Fosfoquinase Creatina.