Transcriptome analysis of Myotonic Dystrophy type 2 (DM2) patients

Myotonic Dystrophy Type-2 (DM2) is an autosomal dominant disease caused by the expansion of a CCTG tetraplet repeat. It is a multisystemic disorder, affecting skeletal muscles, the heart, the eye, the central nervous system and the endocrine system. Whole mRNAs expression was measured in the muscle of DM2 patients and compared it to controls.We identified distinct genes modulated in DM2 patients compared to controls. Our study included 10 DM2 and 10 control (CTR) muscle biopsies from biceps brachii. DM2 and CTR were age- and sex- matched. Most DM2 patients had myotonia and cataract, two disease hallmarks, while differences in other clinical parameters (muscle strenght, diabetes, CPK, FT3, FT4, TSH, ejection fraction) were not significant. Genes expression was assessed by Affymetrix Gene Chip Human Exon 1.0 ST Array.

Dataset features

Information

Specifications

Application:	Gene expression microarray analysis
Number of samples:	20
Release date:	Apr 5 2015
Last update date:	Oct 29 2018
Access:	Public
Diseases:	Myotonic Dystrophy, Multiple System Atrophy
Dataset link	Transcriptome analysis of Myotonic Dystrophy type 2 (DM2) patients

Experimental Protocol

Our study included 10 DM2 and 10 control (CTR) muscle biopsies from biceps brachii. DM2 and CTR were age- and sex- matched. Most DM2 patients had myotonia and cataract, two disease hallmarks, while differences in other clinical parameters (muscle strenght, diabetes, CPK, FT3, FT4, TSH, ejection fraction) were not significant. Genes expression was assessed by Affymetrix Gene Chip Human Exon 1.0 ST Array.

Repositories

GEO

GSE37084

ArrayExpress

E-GEOD-37084

BioProject

PRJNA158103

Download

Contact

Fabio Martelli