Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.

ABSTRACT: Myopathy refers to a large group of heterogeneous, rare muscle diseases. Bulk RNA-sequencing has been utilized for the diagnosis and research of these diseases for many years. However, the existing valuable sequencing data often lack integration and clinical interpretation. In this study, we integrated bulk RNA-sequencing data from 1221 human skeletal muscles (292 with myopathies, 929 controls) from both databases and our local samples. By applying a method similar to single-cell analysis, we revealed a general spectrum of muscle diseases, ranging from healthy to mild disease, moderate muscle wasting, and severe muscle disease. This spectrum was further partly validated in three specific myopathies (97 muscles) through clinical features including trinucleotide repeat expansion, magnetic re

SUBMITTER: Zhong H 

PROVIDER: S-EPMC11006663 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature