scholarly journals Myotonic Dystrophy Type 1 (DM1): From the Genetics to Molecular Mechanisms

10.5772/30209 ◽  
2012 ◽  
Author(s):  
Jonathan J. ◽  
Bulmaro Cisneros
Keyword(s):  
Myotonic Dystrophy ◽  
Molecular Mechanisms ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

scholarly journals Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin

2021 ◽  
Vol 18 (4) ◽  
pp. 1794
Author(s):  
Tiago Mateus ◽  
Filipa Martins ◽  
Alexandra Nunes ◽  
Maria Teresa Herdeiro ◽  
Sandra Rebelo
Keyword(s):  
Metabolic Syndrome ◽  
Myotonic Dystrophy ◽  
Molecular Mechanisms ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Inflammasome Activation ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Metabolic Alterations

Myotonic dystrophy type 1 (DM1) is an autosomal dominant hereditary and multisystemic disease, characterized by progressive distal muscle weakness and myotonia. Despite huge efforts, the pathophysiological mechanisms underlying DM1 remain elusive. In this review, the metabolic alterations observed in patients with DM1 and their connection with lipin proteins are discussed. We start by briefly describing the epidemiology, the physiopathological and systemic features of DM1. The molecular mechanisms proposed for DM1 are explored and summarized. An overview of metabolic syndrome, dyslipidemia, and the summary of metabolic alterations observed in patients with DM1 are presented. Patients with DM1 present clinical evidence of metabolic alterations, namely increased levels of triacylglycerol and low-density lipoprotein, increased insulin and glucose levels, increased abdominal obesity, and low levels of high-density lipoprotein. These metabolic alterations may be associated with lipins, which are phosphatidate phosphatase enzymes that regulates the triacylglycerol levels, phospholipids, lipid signaling pathways, and are transcriptional co-activators. Furthermore, lipins are also important for autophagy, inflammasome activation and lipoproteins synthesis. We demonstrate the association of lipin with the metabolic alterations in patients with DM1, which supports further clinical studies and a proper exploration of lipin proteins as therapeutic targets for metabolic syndrome, which is important for controlling many diseases including DM1.

scholarly journals Nuclear Envelope Alterations in Myotonic Dystrophy Type 1 Patient-Derived Fibroblasts

2022 ◽  
Vol 23 (1) ◽  
pp. 522
Author(s):  
Diana Viegas ◽  
Cátia D. Pereira ◽  
Filipa Martins ◽  
Tiago Mateus ◽  
Odete A. B. da Cruz e Silva ◽  
...  
Keyword(s):  
Nuclear Envelope ◽  
Myotonic Dystrophy ◽  
Molecular Mechanisms ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Protein Levels ◽  
Distal Muscle ◽  
Multisystemic Disease ◽  
And Control

Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease characterized by myotonia, progressive distal muscle weakness and atrophy. The molecular mechanisms underlying this disease are still poorly characterized, although there are some hypotheses that envisage to explain the multisystemic features observed in DM1. An emergent hypothesis is that nuclear envelope (NE) dysfunction may contribute to muscular dystrophies, particularly to DM1. Therefore, the main objective of the present study was to evaluate the nuclear profile of DM1 patient-derived and control fibroblasts and to determine the protein levels and subcellular distribution of relevant NE proteins in these cell lines. Our results demonstrated that DM1 patient-derived fibroblasts exhibited altered intracellular protein levels of lamin A/C, LAP1, SUN1, nesprin-1 and nesprin-2 when compared with the control fibroblasts. In addition, the results showed an altered location of these NE proteins accompanied by the presence of nuclear deformations (blebs, lobes and/or invaginations) and an increased number of nuclear inclusions. Regarding the nuclear profile, DM1 patient-derived fibroblasts had a larger nuclear area and a higher number of deformed nuclei and micronuclei than control-derived fibroblasts. These results reinforce the evidence that NE dysfunction is a highly relevant pathological characteristic observed in DM1.

scholarly journals Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1

2007 ◽  
Vol 16 (23) ◽  
pp. 2834-2843 ◽  
Author(s):  
S.-i. Hino ◽  
S. Kondo ◽  
H. Sekiya ◽  
A. Saito ◽  
S. Kanemoto ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Molecular Mechanisms ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Aberrant Splicing

SEVERE CONGENITAL MYOTONIC DYSTROPHY TYPE 1

2018 ◽  
Vol 97 (1) ◽  
pp. 78-81
Author(s):  
E.A. Mamaeva ◽  
◽  
L.A. Fedorova ◽  
S.E. Voronovich ◽  
V.D. Nazarov ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Congenital Myotonic Dystrophy
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