Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients.

ABSTRACT: Facioscapulohumeral muscular dystrophy (FSHD) is caused by the expression of DUX4 in skeletal muscles. A number of therapeutic approaches are being developed to antagonize the events preceding and following DUX4 expression that leads to muscular dystrophy. Currently, the possibility to evaluate treatment response in clinical trials is hampered by the lack of objective molecular biomarkers connecting the disease cause to clinical performance. In this study we employed RNA-seq to examine gene expression in PAXgene tubes obtained from two independent cohorts of FSHD patients. Analysis of gene expression profiles did not lead to the identification of genes or pathways differentially expressed in FSHD patients, or associated with disease severity. In particular, we did not find evidence that th

SUBMITTER: Signorelli M 

PROVIDER: S-EPMC7567883 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature