Bioinformatics Analysis of Dysferlinopathy and Related Muscle Muscle Diseases

Presenter

Steven Basaistegui

Campus

Fitchburg State University

Sponsor

Eric Owen Williams, Department of Biology and Chemistry, Fitchburg State University

Schedule

Session 4, 2:30 PM - 3:15 PM [Schedule by Time][Poster Grid for Time/Location]

Location

Poster Board A27, Campus Center Auditorium, Row 2 (A21-A40) [Poster Location Map]

Abstract

Dysferlinopathy is a group of muscle diseases that result in muscular dystrophy due to the loss of proper function of dysferlin within muscle cells. Within the cell, dysferlin is important for the regeneration of damaged cell membranes with the help of other proteins. For people with dysferlinopathy, the dysferlin in their cells gets stuck in the endoplasmic reticulum and doesn't ever reach the cell membrane in order to repair it, leading to the death of that cell. With continuous cell loss, myopathy gets more and more severe and victims lose strength in their muscles, commonly arms and legs, due to muscle being replaced by fat. The study I will be conducting will involve using programming and bioinformatics techniques to computationally analyze the relationship between dysferlinopathy-affected gene sets and a normal/control gene set. By conducting this research, we will be able to identify gene networks that are affected by dysferlinopathy and also be able to compare them to the gene networks that are altered in other muscle diseases. Dysferlinopathy is a condition with no stable solution or cure. Using data analysis and bioinformatic tools, we hope to determine the main cause of this disease which is a very crucial step for those around the world that suffer from dysferlinopathy and have no means of making it easier to live with.

Keywords

Bioinformatics, Biology, Muscle Diseases, Data Analysis

Research Area

Biological Organisms

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