Zobrazit v EDS

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

Uloženo v:
Podrobná bibliografie
Název: Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.
Autoři: Zhong, Huahua, Sian, Veronica, Johari, Mridul, Katayama, Shintaro, Oghabian, Ali, Jonson, Per Harald, Hackman, Peter, Savarese, Marco, Udd, Bjarne
Zdroj: Communications Biology; 4/10/2024, Vol. 7 Issue 1, p1-9, 9p
Témata: INCLUSION body myositis, NEMALINE myopathy, MUSCLE diseases, TRINUCLEOTIDE repeats, SKELETAL muscle, MAGNETIC resonance imaging, POLYMERASE chain reaction
Abstrakt: 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 resonance imaging fat fraction, pathology, and clinical severity scores. This spectrum helped us identify 234 genuinely healthy muscles as unprecedented controls, providing a new perspective for deciphering the hallmark genes and pathways among different myopathies. The newly identified featured genes of general myopathy, inclusion body myositis, and titinopathy were highly expressed in our local muscles, as validated by quantitative polymerase chain reaction. This study analysed bulk RNA-sequencing data from 1221 human skeletal muscles and validated the progressive spectrum of myopathy diseases. [ABSTRACT FROM AUTHOR]
Copyright of Communications Biology is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Databáze: Complementary Index
Popis
Abstrakt: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 resonance imaging fat fraction, pathology, and clinical severity scores. This spectrum helped us identify 234 genuinely healthy muscles as unprecedented controls, providing a new perspective for deciphering the hallmark genes and pathways among different myopathies. The newly identified featured genes of general myopathy, inclusion body myositis, and titinopathy were highly expressed in our local muscles, as validated by quantitative polymerase chain reaction. This study analysed bulk RNA-sequencing data from 1221 human skeletal muscles and validated the progressive spectrum of myopathy diseases. [ABSTRACT FROM AUTHOR]
ISSN:23993642
DOI:10.1038/s42003-024-06143-3