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Homo sapiens

ABSTRACT: RNA sequencing of heart samples of myotonic dystrophic (DM1) patients

PROVIDER: PRJNA280990 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR1971630_1.fastq.gz	Fastqsanger.gz
	SRR1971630_2.fastq.gz	Fastqsanger.gz
	SRR1971631_1.fastq.gz	Fastqsanger.gz
	SRR1971631_2.fastq.gz	Fastqsanger.gz
	SRR1971626_1.fastq.gz	Fastqsanger.gz

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Homo sapiens

Project description:RNA sequencing of skeletal muscle of myotonic dystrophic (DM1) patients

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Expression and Splicing Analysis of Myotonic Dystrophy and Other Dystrophic Muscle

Project description:The prevailing patho-mechanistic paradigm for myotonic dystrophy (DM) is that the aberrant presence of embryonic isoforms is responsible for many, if not most, aspects of the pleiotropic disease phenotype. In order to identify such aberrantly expressed isoforms in skeletal muscle of DM type 1 (DM1) and type 2 (DM2) patients, we utilized the Affymetrix exon array to characterize the largest collection of DM samples analyzed to date, and included non-DM dystrophic muscle samples (NMD) as disease controls.

2016-01-05 | GSE48828 | GEO

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Project description:Myotonic dystrophy type 1 (DM1) is a multisystem genetic disorder involving the muscle, heart, and central nervous system (CNS). The pathogenesis of CNS symptoms prevalent in patients with DM1 remains unelucidated. To elucidate the CNS pathogenesis in DM1, we investigated cell type-specific abnormalities in cortical neurons, white matter glial cells, and spinal motor neurons of patients with DM1 via laser-capture microdissection(LCM).

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RNA sequencing of heart samples of myotonic dystrophic (DM1) patients

Project description:Analysis of alternative splicing in heart (left ventricles) samples of 3 adult DM1 patients versus 3 adult controls PolyA RNA from left ventricles (heart) of 3 controls and 3 DM1 patients were analysed by massive parrallel sequencing

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Antagonistic role of MBNL1 and LIN28 promotes specific alteration of pre-miR-1 processing and is associated with heart defects in DM

Project description:Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults, is caused by the expression of expanded CUG repeats, which sequester the MBNL1 RNA binding protein. Cardiac involvement, which is characterized by conduction defects and arrhythmias, is the second cause of death of DM1 patients. Down-expression of miR-1 in mice leads to cardiac conduction disturbances and to arrhythmias. Here, we show that miR-1 expression is decreased in DM1 hearts, due to a mis-regulation of the processing of pre-miR-1. MBNL1 binds to UGC motifs located within the pre-miR-1 loop and competes binding of LIN28, which promotes uridylation and blocks pre-miR-1 processing. Finally and consistent with a down-regulation of miR-1, known, GJA1, and novel, CACNA1C, targets of miR-1 are increased in DM1 hearts. CACNA1C and GJA1 encode the main calcium and gap junction channels in heart, respectively, and their mis-regulation may contribute to the heart arrythmias and conduction defects observed in DM1 patients. Total RNA of 3 control and 3 CDM1 primary culture of muscle cells differentiated 10 days into myotubes was extracted using Trizol and analyzed by Agilent microarray.

2011-05-26 | E-GEOD-24109 | biostudies-arrayexpress

E-GEOD-67812

Project description:RNA-seq of myotonic dystrophic and control heart samples

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Homo sapiens whole blood.

Project description:RNA extracted at 240min. Samples are rRNA depleted. Expression measurement of Homo sapiens genes.

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Project description:Myotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy caused by expansion of a CTG repeat microsatellite within DMPK. In 10-20% of individuals with DM1, symptomatic onset begins at birth; these patients are classified as congenital myotonic dystrophy (CDM). While dysregulation of RNA metabolism, specifically alternative splicing, has been linked to disease pathology in adult-onset DM1, little is known about the mechanism of CDM. Biopsies from individuals (CDM), age range 0.04-16 years, were subjected to total RNA-seq to quantify the transcriptomic dysregulation throughout pediatric development. To achieve this, they were compared against age matched pediatric controls which revealed a triphasic pattern of dysregulation not before seen observed in CDM. CDM samples were also compared to adult-onset (DM1) individuals which showcased a shared disease signature to seen in all individuals with myotonic dystrophy irrespective of disease age of onset.

2022-11-17 | GSE201255 | GEO

Overexpression of the non-muscle RBFOX2 isoform triggers cardiac conduction defects in myotonic dystrophy

Project description:Myotonic dystrophy type 1 (DM1) is a multisystemic genetic disorder caused by a CTG trinucleotide repeat expansion in the 3′ untranslated region of DMPK gene. Heart dysfunctions occur in nearly 80% of DM1 patients and are the second leading cause of disease-related deaths, yet, the underlying mechanisms remain unclear. Herein, we report that upregulation of a non-muscle splice isoform of RNA binding protein RBFOX2 in DM1 heart tissue—due to altered splicing factor and microRNA activities—induces the characteristic cardiac conduction defects detected in DM1 individuals. Mice engineered to express the non-muscle RBFOX2 isoform in heart via tetracycline- inducible transgenesis, or CRISPR/Cas9 targeted genome editing, reproduced DM1- related cardiac-conduction delay and spontaneous episodes of arrhythmia. Furthermore, by integrating RNA binding with cardiac transcriptome datasets of DM1 patients, and mice expressing the non-muscle RBFOX2 isoform, we identified a core network of RBFOX2-driven splicing defects in sodium, potassium, and calcium channels that can alter their rate of ion diffusion and electrophysiological properties. Thus, our results uncover a trans-dominant role for an aberrantly expressed RBFOX2 isoform in DM1 cardiac pathogenesis.

2020-03-10 | GSE126771 | GEO

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