What Protein Is Affected By Muscular Dystrophy?

Muscular dystrophies refer to group of various genetic conditions, which characterize progressive muscular weakness and atrophy i.e., wasting. Its major types are Becker and Duchenne, both of which are related health conditions.1 Because of this, they mainly affect one’s skeletal muscles used primarily for body movements and cardiac or heart muscles. Both of these types of muscular dystrophy often take place in an exclusive way in males.

What Protein Is Affected By Muscular Dystrophy?

Dystrophin is the protein that causes muscular dystrophy. Genetic mutations cause both Becker and Duchenne forms of muscular dystrophy.2 DMD gene gives instructions to create a protein i.e. dystrophin, which is primarily present in cardiac and skeletal muscles. Dystrophin protein stabilizes and protects one’s muscle fibers and at the same time, it has a major role in chemical signaling inside body cells. Genetic mutations associated with muscular dystrophy alter both function and structure of dystrophic or avoid the production of any functional dystrophic.

Muscles cells without getting dystrophin protein in adequate amounts suffer damages, as muscles contract and relax repeatedly while you perform different activities.

Damaged fibers become weak or die with time resulting in cardiac problems and muscle weakness associated with muscular dystrophies.

Mutations resulting in abnormal version of the protein to retain a few body functions often cause Becker type of muscular dystrophy. On the other side, mutations preventing the production of dystrophin i.e. functional protein cause Duchenne type of muscular dystrophy. As both Becker and Duchenne type of muscular dystrophies take place due to missing or faulty dystrophic, experts call these conditions as dystrophinopatihies.

X-linked Inheritance Causes Muscular Dystrophy

Individuals often inherit this condition in the form of recessive pattern in X-linked way. The associated gene remains present on X chromosome i.e. one from the two different sex chromosomes. In males with single chromosome, an altered copy of the respective gene present in each cell is enough to cause dystrophy. In case of females with two X chromosomes, mutations may take place in the gene’s both copies to cause muscular dystrophy.

However, females rarely have two different altered copies of their genes, males often affected because of recessive disorders frequently as compared to females. A prime feature of an X-linked type of inheritance is that fathers are unable to pass X-linked traits into their children. In most of the cases, affected male inherits genetic mutation from his mother carrying an altered copy of the muscular dystrophy gene.

Signs and Symptoms, Effects on Muscular Dystrophy Patients

Becker and Duchenne dystrophies have same signs and symptoms, while take place due to same type of genetic mutation. However, difference between the two conditions lies in the onset age, severity level and progression rate. If a boy suffers from Duchenne muscular dystrophy, he may experience muscle weakness during his early childhood and his condition becomes worse in a rapid way.

Affected children thus have delayed motor skills, like walking, sitting and standing, while a few of them may require wheelchair by their adolescence. Signs and symptoms in case of Becker dystrophy are relatively mild and varying ones. In many conditions, patients experience apparent muscle weakness later during their childhood or during adolescence, while their condition becomes worse at a slow pace.

If we analyze the condition in detail, we will find that muscular weakness starts at early age i.e. from 3 years and it initially affects pelvic area, shoulders, thighs and hips, along with skeletal muscles present in one’s trunk, legs and arms. Moreover, calves enlarge and when the patient reaches his early teen, he experience problems with respiratory and cardiac muscles.

Conclusion

Based on aforementioned aspects about dystrophin protein, genetic mutations and X-linked inheritance, signs and symptoms, along with other major symptoms related to muscular dystrophy, we should say that muscular dystrophy takes place because of alteration or gene mutation that prevents production of dystrophin or produces it in an abnormal way.

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