Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies.

ABSTRACT:

Objective

To define the transcriptomic changes responsible for the histologic alterations in skeletal muscle and their progression in collagen VI-related muscular dystrophy (COL6-RD).

Methods

COL6-RD patient muscle biopsies were stratified into three groups based on the overall level of pathologic severity considering degrees of fibrosis, muscle fiber atrophy, and fatty replacement of muscle tissue. Using microarray and RNA-Seq, we then performed global gene expression profiling on the same muscle biopsies and compared their transcriptome with age- and sex-matched controls.

Results

COL6-RD muscle biopsy transcriptomes as a group revealed prominent upregulation of muscle extracellular matrix component genes and the downregulation of skeletal muscle and mitochondrion-sp

SUBMITTER: Guadagnin E 

PROVIDER: S-EPMC8607456 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature