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Replacement of Defective Genes A story of familial hypercholesterolemia

Replacement of Defective Genes A story of familial hypercholesterolemia. By, Russell Brown, Amber Ellis, and Stacey Leonard. Condition. Familial Hypercholesterolemia caused by a defect in the gene coding for the receptor of low density lipoproteins (LDL).

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Replacement of Defective Genes A story of familial hypercholesterolemia

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  1. Replacement of Defective GenesA story of familial hypercholesterolemia By, Russell Brown, Amber Ellis, and Stacey Leonard

  2. Condition • Familial Hypercholesterolemia • caused by a defect in the gene coding for the receptor of low density lipoproteins (LDL). • Patients with the disease have early cardiovascular damage, especially of the coronaries, correlated with an abnormally high LDL/HDL ratio. • no functional LDL-receptor gene

  3. Wilson et al. (1992) presented a detailed clinical protocol for the ex vivo gene therapy of familial hypercholesterolemia. Their approach involves recovery of hepatocytes from the patient and reimplanting them after genetic correction by a retrovirus-mediated gene transfer. Not only were the technical details of vectors and viruses, transduction and delivery of hepatocytes, evaluation of engraftment and rejection, etc., discussed, but also assessment of risks versus benefits.

  4. How the therapy works • Liver cells are dissected from affected patient • Grown in a petri dish to increase amounts • Retrovirus which contains good gene is added • Modified (good) liver cells are injected into the portal vein which then carries it to the liver • Cells start reproducing in liver, producing protein that is necessary to develop receptor sites, thus lowering LDL levels in the blood

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