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Autoimmune Diseases

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identify the gene(s) involved and describe the precise genetic mutation affecting the gene(s);

Compare and contrast the gene products (proteins) encoded by those gene(s) and their functions, both in normal, healthy individuals, and in individuals with the genetic disorder;

Describe the current treatments and their efficacy.

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Solution Summary

The solution discusses the autoimmune disease, myesthenia gravis.

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Myesthenia Gravis
identify the gene(s) involved and describe the precise genetic mutation affecting the gene(s);
compare and contrast the gene products (proteins) encoded by those gene(s) and their functions, both in normal, healthy individuals, and in individuals with the genetic disorder;
describe the current treatments and their efficacy;

Myasthenia gravis ( MG) is an autoimmune syndrome that caused by the failure of the neuromuscular transmission because of autoantibodies that bind to proteins involve in the signaling of neuromuscular junction ( NMJ). The autoantibodies that bind to these proteins include the nicotinic acetycholine receptor AChR, and the muscle tyrosine kinase (MuSK). (1) The binding lead to reduce level of AChR. It is called an autoimmune disease because the immune system attacks the body's own tissues and organs. In this case, the antibodies of the immune system attack and disturb the transmission of nerve impulses to muscles by producing protein called antbibody that attaches to proteins responsible for nerve signal transmission. The reduced level of AChR ...

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