Team:New York City/Description
Our Motivation
Huntington's Disease (HD) is an autosomal dominant genetic disorder, meaning that if one allele out of two carries the HTT mutation the HD gene will produce the faulty protein of Huntingtin. Therefore, the children of an individual suffering from HD will have a 50/50 chance of carrying the faulty gene if they do not express it themselves. According to the Huntington's Disease Society of America, the "quintessential family disease" and the ability of this disease to wreak such devastating and overarching damage on an individual and all those around them are one of the root reasons our team has chosen to tackle HD. For instance, HD is adult-onset (30s to 50s) and many individuals go about their lives and form families without the knowledge of the storm looming on the horizon. At the time of their diagnosis, their children will be revealed to be at risk of inheriting the disease. HD robs a patient of their life, eventually leaving them physically, cognitively, and behaviorally inept to continue their daily tasks and responsibilities. Although HD is classified as a rare disorder, the tragic and frightful effects it has upon patients, carriers, and families call for a resolution to be developed in the near future.
Abstract
Huntington's Disease (HD) is an autosomal dominant disorder that leads to the progressive degeneration of neurons in the brain, which currently has no cure. HD is typically adult-onset and is characterized by a variety of symptoms including memory loss, involuntary movements, poor coordination, and impaired decision-making. Mutation in the huntingtin (HTT) gene causes HD, specifically a trinucleotide repeat of CAG that is abnormally repeated over 40 times. The goal of our project was to test the effectiveness of the plasmid that we generated last year, which targets and blocks endogenous faulty mRNA and releases a corrected RNA strand for proper protein synthesis of the HTT gene. The efficacy of this plasmid was tested on huntingtin cell lines, specifically the HeLa/polyQ-mCFP cell line. The effectiveness of this treatment was tested by evaluating whether the quantity of mutated HTT protein decreases after transfecting cells with the engineered plasmid.
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