Dystrophin-Glycoprotein Research Paper

While there is no known cure, scientists are certain of the genetic make-up that causes muscular dystrophy, an inherited faulty gene. This gene can be inherited in one of four ways: X-linked or sex-linked recessive, when a man with X-Linked muscular dystrophy has children, Autosomal Recessive Inheritance, and Autosomal Dominant Inheritance.

According to the " Muscle Diseases" by Patrick F.Chinnery in the Goldman's Cecil Medicine, 24th Ed 2012, "Duchenne Muscular Dystrophy affects about 1 in 3500 males. About one third of the cases arises from a de novo mutation without a family history."

Duchenne Muscular Dystrophy is a disease which causes skeletal muscle to waste away, this wasting of muscle is caused by a mutation of the dystrophin gene (Meregalli et al., 2013, p. 4251).

Occurrence of muscle dystrophy is estimated to be one in 3-4,000 male births. There are also about 15,000 muscular dystrophy patients in the United States today with this disease. Those who have muscular dystrophy are missing the protein called dystrophin. Before scientists ever discovered the missing protein, the tested carriers for the disease had a high presence of elevated serum levels of creatine and phosphokinase. The disease can now be found for a prenatal diagnosis.

Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are

Genetics is a key factor in potentially developing a form of muscular dystrophy, as it is caused by a gene that protects muscle fibers suddenly becoming defective. However, this particular genetic mutation can abruptly occur while an embryo is still developing in the egg of the mother. Muscular dystrophy can occur in an individual of any age, sex, or race. The most common form of MD diagnosed, Dechenne, is most often found in males of a youg age. However, family history of the disease is the biggest risk factor associated with developing it.

Nowak KJ, & Davies KE. (2004). Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Reports, 5(9), 872-876. doi:10.1038/sj.embor.7400221

Muscular dystrophy (MD) is a rare, progressive disease relating to the weakening of skeletal muscles. There are more than 30 types of muscular dystrophy that are further divided into nine categories. Duchenne MD is the most common and acute form of this condition that accounts for 50% of all the cases. Duchenne MD (DMD) is most prevalent in males, between the ages of 3 and 5 (Norwood, FL, et al. 2009). This X-linked disease occurs for 1 in every 3,500 males, which results in confinement to a wheelchair (Blake et al., 2002). Becker MD (BMD) is a less severe type of this condition. A study conducted in the United Kingdom by Bushby, Thambyayah and Gardner-Medwin, the incidence of Becker MD was estimated to be 1 in 18,450 males at birth

Duchenne muscular dystrophy (DMD) is a genetic disease that weakens one’s muscles. DMD is inherited through an X linked pattern due to the gene carrying the DMD mutation is on the X chromosome. The male population are affected by DMD almost exclusive. There is a one in two chance that a male offspring will have DMD if their mother is a carrier of the mutated gene. Every boy inherits an X chromosome from their mother and a Y from their father. If a boy inherits the mutated gene, then they will definitely have the disease because they don’t have a second gene to make up for the faulty one. Female with DMD are very rare in comparison to their counterpart. Girls inherits two X chromosomes, one from each parent. When a girl inherits

The cause of Duchenne muscular dystrophy is by a gene on the X chromosome. It is mainly seen in boys and results in issues with the lower part of the body. This is a genetic disease that occurs at a very young age and is typically because of a genetic disorder. Males are born with one X and one Y

DMD is caused by a mutation in the X-linked dystrophin gene, which results in a dysfunctional dystrophin protein. Dystrophin is a cytoskeletal protein that provides mechanical stability to muscle cells by connecting the muscle sarcolemma to the basal lamina of the extracellular matrix (ECM), and without it there, the muscle cells typically undergo a process of degeneration and regeneration. This process is limited by the survival of satellite cells present since satellite cells can only undergo mitosis a limited amount of times. Sarcolemma instability typically results in excess intracellular amounts of both sodium and calcium, which causes ATP depletion and mitochondrial uncoupling (Horn & Schleip, 2012). Satellite cells only have a limited number times they can undergo mitosis, and once a patient can no longer generate healthy muscle cells, the patient will typically experience cell death. This cell death and necrosis usually

There are over 30 types of Muscular Dystrophy. I am only going to discuss a few of the most common kinds. The first one I am going to discuss is the most common type and the most severe type of Muscular Dystrophy, Duchene Muscular Dystrophy (DMD). This type of MD affects mostly boys between the ages of 3 and 5 and accounts for over 50% of all cases. This deficiency is caused by a lack of dystrophin, a protein that helps reinforce muscle fibers and shield them from injury. This type of disease progresses very fast and by the age of 12 most can’t walk. Some of the signs you might see in an individual with this disease are falling down, trouble getting up from lying down or sitting position, and a swayed gate. As the disease further progresses they will need to be placed on a respirator which can lead to complications and by their early 20’s most pass away (5).

Emery-Dreifuss Muscular Dystrophy (EDMD) - This is 1/9 types of muscular dystrophy, these diseases mainly affect your voluntary muscles. It’s named after Alan Emery and Fritz Dreifuss, physicians who first described this disease in the 1960s. EDMD is caused by gene mutations that cause the produce of proteins in the nuclear membrane of each muscle cell. Also it can be inherited in a number of ways, but each inheritance pattern usually has the same symptoms. EDMD usually shows itself by the age of 10 and it’s described as the wasting and weakness of muscles making up your shoulders, upper arms, and calf muscles of legs. Another major EDMD aspect is appearance of contractures (stiff joints) in the elbows, neck, and heels early in the disease’s

Myotonic dystrophy is one of the most common muscle disorders in the world that affects one’s muscles and makes their whole body weak. Myotonic dystrophy is a dominant inherited trait. Having one copy of the gene in each cell will cause the disorder and it is located on the long arm of chromosome nineteen. There are two types; type 2 of myotonic dystrophy is less harmful than type 1 and it affects one in eight thousand people in the world, usually between the ages of twenty and thirty. Symptoms include weakness in the face, neck, hands, and legs. Sometimes people will get cataracts and an irregular heartbeat, and if men have myotonic dystrophy, they might not be fertile to produce a child. If a baby is born with myotonic dystrophy, they will

Muscular Dystrophy (MD) is a group of genetic diseases in which the voluntary muscles are affected. MD causes weakness and degeneration of muscles progressively overtime. It is most common in young males; but in rare cases it can occur in females. MD is caused by mutations on the X-chromosome gene that prevents the body from producing an essential muscle protein called dystrophy, in which without it muscles weaken (Leung & Wagner, 2013). There are 9 major types of MD, which include Becker, Emery-Dreifuss, Myotonic, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Limb-girdle, and the most common Duchenne Muscular Dystrophy (DMD) (CDC, 2016). DMD is caused by the mutation of x-linked recessive inheritance, in which this is