Difference between revisions of "Team:ASIJ Tokyo"
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| + | <h1> ABSTRACT </h1> | ||
| + | <p> Alpha-1 Antitrypsin is a relatively common genetic disorder -- the defective gene for which is carried by 1 in 25 people -- which arises from a single base pair mutation in the SERPINA1 gene, resulting in the production of a form of antitrypsin prone to polymerization. The mutated antitrypsin then builds up in liver cells and is unable to inhibit proteases in the lungs, leading to damage in both. Using CRISPR-Cas9 technology, we aimed to fix the error in SERPINA1 so that proper antitrypsin can be produced. We showed proof of concept in E. Coli cells using osmy secretion tags and XXX reporters. Eventually, we aim to utilize this methodology in hepatocytes of victims affected with the deficiency by inducing pluripotency and reimplanting the ‘fixed’ cells back into the patient through collaboration with Dr. Kagimoto of Healios Japan KK. </p> | ||
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Revision as of 02:04, 22 June 2018
ABSTRACT
Alpha-1 Antitrypsin is a relatively common genetic disorder -- the defective gene for which is carried by 1 in 25 people -- which arises from a single base pair mutation in the SERPINA1 gene, resulting in the production of a form of antitrypsin prone to polymerization. The mutated antitrypsin then builds up in liver cells and is unable to inhibit proteases in the lungs, leading to damage in both. Using CRISPR-Cas9 technology, we aimed to fix the error in SERPINA1 so that proper antitrypsin can be produced. We showed proof of concept in E. Coli cells using osmy secretion tags and XXX reporters. Eventually, we aim to utilize this methodology in hepatocytes of victims affected with the deficiency by inducing pluripotency and reimplanting the ‘fixed’ cells back into the patient through collaboration with Dr. Kagimoto of Healios Japan KK.
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