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Muscular Dystrophy

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Muscular dystrophy refers to, not one, but a group of muscle diseases. These diseases have three features in common: they are hereditary; they are progressive; and each causes a characteristic and selective pattern of weakness. Duchenne muscular dystrophy (DMD) is the most prevalent and severe childhood form of this group of diseases.
Each form of muscular dystrophy is caused by a defect in a specific gene. In 1986, scientists discovered exactly which piece of genetic material is missing in Duchenne muscular dystrophy patients. They named it for Guillaume Benjamin Amand Duchenne(1806-1875), a French neurologist who was one of the first doctors to discover and study the disease. When functioning properly, the Duchenne gene carries instructions for assembling a muscle protein known as dystrophin. At about 2,500,000 nucleotides, dystrophin is one of the largest genes known. Dystrophin is largely responsible for reinforcing and stabilizing the sarcolemma. Dystrophin associates with the muscle fiber sarcolemma by interacting with the actin microfilaments and with a transmembrane protein complex linked to the extracellular matrix. This latter dystrophin-associated glycoprotein complex (DAGC) includes the extracellular proteoglycan, [Alpha]-dystroglycan, which binds to merosin in muscle fiber basal laminae, as well as a number of other integral and cytoplasmic membrane proteins: [Alpha]-dystroglycan; [Alpha]-, [Beta]- and [Gamma]- sarcoglycans (see Figure 1). The DAGC provides a ...

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...ause the injected myoblasts do not seem to travel very far from the injection site. The last type of research deals with a protein called utrophin. It is hoped that this protein could functionally take over for dystrophin. Scientists are trying to discover a chemical that will upregulate utrophin production without disrupting anything else in the body.
     Until a cure is found 1 in approximately every 3,500 boys will inherit Duchenne muscular dystrophy and eventually die from it. The current treatments only place a temporary obstacle in front of the disease. It is hoped that advancements in the fields of science and medicine will help to speed along the discovery of a cure for this debilitating muscular disease.

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