ArticleNeuropathology and applied neurobiology2013
Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2.
Article in Neuropathology and applied neurobiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Muscular Dystrophies.Advances in experimental medicine and biology · 2025Review
- Article
- Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy.Human molecular genetics · 2022Article
- Proof of concept of peptide-linked blockmiR-induced MBNL functional rescue in myotonic dystrophy type 1 mouse model.Molecular therapy. Nucleic acids · 2022Article
- Identification of DAPK1 as an autophagy-related biomarker for myotonic dystrophy type 1.Frontiers in genetics · 2022Article
- Article
- Endurance exercise leads to beneficial molecular and physiological effects in a mouse model of myotonic dystrophy type 1.Muscle & nerve · 2019Article
- Characterization of Iron Accumulation in Deep Gray Matter in Myotonic Dystrophy Type 1 and 2 Using Quantitative Susceptibility Mapping and R2Frontiers in neurology · 2019Article
- Investigation of the molecular mechanisms underlying myotonic dystrophy types 1 and 2 cataracts using microRNA‑target gene networks.Molecular medicine reports · 2017Article
- Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I.The Journal of clinical investigation · 2017Article
- Functional KCa1.1 channels are crucial for regulating the proliferation, migration and differentiation of human primary skeletal myoblasts.Cell death & disease · 2016Article
- Can Human Pluripotent Stem Cell-Derived Cardiomyocytes Advance Understanding of Muscular Dystrophies?Journal of neuromuscular diseases · 2016Review
- The neonatal sarcoplasmic/endoplasmic reticulum calcium ATPase (SERCA1b): a neglected pump in scope.Pflugers Archiv : European journal of physiology · 2015Review
- The neonatal sarcoplasmic reticulum Ca2+-ATPase gives a clue to development and pathology in human muscles.Journal of muscle research and cell motility · 2015Article
- Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.PloS one · 2014Article
- Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.Neurology · 2013Article
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
Abstract
aimsMyotonic dystrophy types 1 and 2 (DM1 and DM2) are multisystem disorders caused by similar repeat expansion mutations, with similar yet distinct clinical features. Aberrant splicing of multiple effector genes, as well as dysregulation of transcription and translation, has been suggested to underlie different aspects of the complex phenotypes in DM1 and DM2. Ca(2+) plays a central role in both muscle contraction and control of gene expression, and recent expression profiling studies have indicated major perturbations of the Ca(2+) signalling pathways in DM. Here we have further investigated the expression of genes and proteins involved in Ca(2+) metabolism in DM patients, including Ca(2+) channels and Ca(2+) binding proteins.
methodsWe used patient muscle biopsies to analyse mRNA expression and splicing of genes by microarray expression profiling and RT-PCR. We studied protein expression by immunohistochemistry and immunoblotting.
resultsMost of the genes studied showed mRNA up-regulation in expression profiling. When analysed by immunohistochemistry the Ca(2+) release channel ryanodine receptor was reduced in DM1 and DM2, as was calsequestrin 2, a sarcoplasmic reticulum lumen Ca(2+) storage protein. Abnormal splicing of ATP2A1 was more pronounced in DM2 than DM1.
conclusionsWe observed abnormal mRNA and protein expression in DM affecting several proteins involved in Ca(2+) metabolism, with some differences between DM1 and DM2. Our protein expression studies are suggestive of a post-transcriptional defect(s) in the myotonic dystrophies.
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