Iin vitro disease-models

Experiences with inducing in vitro disease-models?

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1. Yes, the preliminary disorders are Freidrichs Ataxia (reduced expression of frataxin as there are more GAA triplets) and Duchenne (mutated form of dystrophin which has functional deficits). A paper on people affected by Duchenne indicated a significant difference in several other genes as well. However for the purpose of these models I will begin with just the main mutations and possibly mimicking physiological environments.
2. So for Freidrichs we have reduced gene expression and in Duchenne there is a functional deficit which leads through molecular pathways to reduced expression in other genes.
3. As I understood, I will be able to use skeletal muscle cells (specifically from the upper leg) from people affected by Duchenne. We will be working with our university hospital and I am unsure if Freidrich’s patients are present.
4. The purpose is, unfortunately not, to investigate new mechanisms or genetics of these diseases. Instead I will be trying to develop in vitro models which should be simililary affected by medication as in vivo cells. In our case specifically the use of iron-scavenging antioxidants

 

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