Literature Review of Muscular Distrophy Essay

Literature Review of Muscular Distrophy Essay

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Background

Before the project began a background literature review was done to understand the basis of the project, including any existing studies that overlap my research and studies that directly relate to my invertigation.

Muscular dystrophy (MD) is a genetic disorder that weakens the muscles that help the body move. People with MD have incorrect or missing information in their genes, which prevents them from making the proteins vital for healthy muscles. MD is genetic, so people are born with the problem — it is not contagious and you can't catch it from someone who has it. MD weakens muscles, so those with the disease can gradually lose the ability to do most physical activities e.g. walking. Someone with MD may start having muscle problems from birth or later in life. There are over 30 types of MD with various symptoms but this particular piece will explore Duchenne Muscular Dystrophy (DMD).
Duchenne muscular dystrophy is a neuromuscular condition. It is the most common type of MD Duchenne Muscular Dystrophy. (DMD) is an X-linked disorder which affects about 1 in 3,500 males. Females are usually carriers of the defective gene that causes the disorder. Under Mendelian inheritance, when a mother carries the defective gene, her female child will have 50% chance of being a carrier and her male child will have 50% chance of having the disease and showing the symptoms. Although the disease is present from conception, symptoms usually develop before the child is 5 or 6 years old. (NHS UK).
DMD is the result of a mutation in the dystrophin gene, which is located on X chromosome (gene locus Xp21.2). That explains why male offsprings are particularly susceptible. DMD produces no functional dystrophin protein . The protein, ca...


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...electroporation, microbubbles and ultrasound.
Challenges facing gene therapy
The common problem for gene therapy is the concern about immune rejection by the target cell. Foreign proteins and DNAs are introduced into the body which will often illict an immune response. Even for the use of plasmids, though it does not contain any protein as they are “naked” DNA, the product will still be a protein which in any case may induce an immune response from the body.
Another hurdle is that the expression of the desired genetic product is often localized to the tissues in which the vectors are introduced. Thus muscle-targeting vectors need to be developed to allow systemic treatment of DMD. Finally, the use of viral vectors to introduce genetic material may carry a risk of insertional mutagenesis as fraction of the viral vector may be integrated into the host genome.

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