Muscular Dystrophy Essay -- essays research papers

Muscular dystrophy refers to, not one, but a conference of brawniness diseases. These diseases have three features in common they ar transmittable they are progressive and each causes a characteristic and selective soma of weakness. Duchenne muscular dystrophy (DMD) is the most prevalent and severe childhood tenor of this group of diseases. Each form of muscular dystrophy is caused by a defect in a specific factor. In 1986, scientists call fored incisively 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 trusty for reinforcing and stabilizing the sarcolemma. Dystrophin asso ciates with the muscle fictional character sarcolemma by interacting with the actin microfilaments and with a transmembrane protein complex tie in 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 opposite integral and cytoplasmic membrane proteins Alpha-dystroglycan Alpha-, Beta- and Gamma- sarcoglycans (see Figure 1). The DAGC provides a physical unite and, potentially, a signaling pathway between the extracellular matrix and the cozy scaffolding of the muscle cells. Mutations in the Duchenne gene result in dystrophin deficiency, which constitutes the morbific basis of DMD. Dystrophin is either absent or severely deficient in a person with DMD. When dystrophin is lost through gene mutation, the muscle fall apart under the tension generated when it contracts. Without dystrophin, the muscle fibers al so lose their great power to regenerate and are eventually replaced with adipose tissue and fibrous junction tissue (see Fig. 2 and Fig. 3). The Duchenne gene has been located on the short offset of the X chromosome. This means that Duchenne muscular dystrophy is inherited as an X-linked recessive disease. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. Therefore, in females, a normal X... ...re out how baffle only one gene in the right cell, how to keep the gene from impairing any other functions and how to get the gene to produce the right tot up of protein. Some researchers are trying a different approach that of myob experience beam therapy. This school of thought attempts to fuse healthy, immature muscle cells with dystrophic cells to make hybridizing muscles that function normally. Unfortunately, initial tests have not fared very well because 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 all 3,500 boys will inherit Duchenne muscular dystrophy and eventually die from it. The menstruation treatments only place a temporary obstacle in search 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.