Research & Scholarly Achievement
at Gallaudet University


Computational Investigation of Ataxia Disease-Causing Mutations

ID: 3612
Status: Ongoing
Start date: February 2017
End Date: October 2019

Description

Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system. Initial symptoms include poor coordination and often times it causes scoliosis or heart disease and diabetes. Currently, there is no cure for Friedreich’s Ataxia. Our research aims to understand how DNA variations cause the disease. There are numerous fast computational methods that can be used for this purpose. However, they are not accurate enough and cannot be relied on. We hypothesize that if the current fast methods can be used in conjunction with smart conformational search, the accuracy can be significantly increased. We use replica-exchange molecular dynamics to generate different conformations of the frataxin protein and then use those conformational with current fast methods. After that we compare our results with known experimental values and iteratively improve the conformational search until we develop a method that is both efficient (fast) and accurate. Once the method is completed, it will be applicable to studying other inherited monogenic (caused by single DNA mutation) diseases.

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