RNA-Sequence Analysis of the mdx Mouse Model of Duchenne Muscular Dystrophy

Abstract

Muscular dystrophy is a spectrum of disorders known to be caused by mutated genes which code for functional muscle proteins, thus causing muscle deterioration. Duchenne muscular dystrophy (DMD) is one of these rare conditions that can cause muscle weakness and loss of muscle mass due to a lack of functioning dystrophin, a muscle protein that connects muscle fibers to the extracellular matrix. Our study compared the diaphragms of mdx and mdx/PtencKO mice to those of wildtype mice, looking for alterations in gene expression using RNA-sequence analysis. Mdx is one of the most prevalent mutations used to study DMD in mice, and previous research has shown that inhibiting PTEN reduces muscle deterioration. This led us to assume that mdx/PtencKO mice will be more similar to wildtype mice in terms of gene expression than mdx mice. To put this to the test, we performed an RNA-sequence analysis in Galaxy, a web-based platform commonly used in biomedical data analysis, followed by a Principal Component Analysis (PCA) in R Studio.