Background Prior to the start of the project a review of the relevant literature was carried out to understand the basis of the project, including any existing studies that overlap with my research and studies that relate directly to my inversion. Muscular dystrophy (MD) is a genetic disease that weakens the muscles that help the body move. People with MD have incorrect or missing information in their genes, which prevents them from producing proteins vital for healthy muscles. MD is genetic, so people are born with the problem: It's not contagious, and you can't catch it from someone who has it. MD weakens muscles, so those with the disease may gradually lose the ability to do most physical activities, such as walking. Someone with MD may begin to have muscle problems from birth or later in life. There are over 30 types of MD with various symptoms, but this article in particular will explore Duchenne muscular dystrophy (DMD). Duchenne muscular dystrophy is a neuromuscular condition. It is the most common type of Duchenne MD muscular dystrophy. (DMD) is an X-linked disease that affects approximately 1 in 3,500 males. Females usually carry the defective gene that causes the disease. According to Mendelian inheritance, when a mother is a carrier of the defective gene, her daughter will have a 50% chance of being a carrier and her son will have a 50% chance of having the disease and showing 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 the X chromosome (Xp21.2 gene locus). This explains why male children are particularly sensitive. DMD does not produce any functional dystrophin proteins. The protein, ca... at the center of the paper... electroporation, microbubbles and ultrasound. The Challenges of Gene Therapy The common problem with gene therapy is the concern about immune rejection by the target cell. Foreign proteins and DNA are introduced into the body and often provoke an immune response. Even for the use of plasmids, although it does not contain any protein as it is "naked" DNA, the product will still be a protein which in any case can induce an immune response from the organism. Another obstacle is that the expression of the desired gene product is often localized in the tissues into which the vectors are introduced. Therefore, it is necessary to develop muscle-targeted vectors to enable systemic treatment of DMD. Finally, the use of viral vectors to introduce genetic material may pose the risk of insertional mutagenesis since a fraction of the viral vector may be integrated into the host genome.
tags