keyword
MENU ▼
Read by QxMD icon Read
search

Myotonic dystrophy

keyword
https://www.readbyqxmd.com/read/29677349/repeat-associated-non-atg-ran-translation-in-fuchs-endothelial-corneal-dystrophy
#1
Elisabetta Soragni, Lina Petrosyan, Tommy A Rinkoski, Eric D Wieben, Keith H Baratz, Michael P Fautsch, Joel M Gottesfeld
Purpose: The strongest genetic association with Fuchs' endothelial corneal dystrophy (FECD) is the presence of an intronic (CTG·CAG)n trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene. Repeat-associated non-ATG (RAN) translation, an unconventional protein translation mechanism that does not require an initiating ATG, has been described in many TNR expansion diseases, including myotonic dystrophy type 1 (DM1). Given the similarities between DM1 and FECD, we wished to determine whether RAN translation occurs in FECD...
April 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29664219/unusual-association-of-a-unique-cag-interruption-in-5-of-dm1-ctg-repeats-with-intergenerational-contractions-and-low-somatic-mosaicism
#2
Tome Stéphanie, Dandelot Elodie, Dogan Céline, Bertrand Alexis, Genevieve David, Pereon Yann, Simon Marie, Bonnefont Jean-Paul, Bassez Guillaume, Gourdon Geneviève
Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder associated with high variability of symptoms and anticipation. DM1 is caused by an unstable CTG repeat expansion that usually increases in successive generations and tissues. DM1 family pedigrees have shown that ∼90% and 10% of transmissions result in expansions and contractions of the CTG repeat, respectively. To date, the mechanisms of CTG repeat contraction remain poorly documented in DM1. In this report, we identified two new DM1 families with apparent contractions and no worsening of DM1 symptoms in two and three successive maternal transmissions...
April 17, 2018: Human Mutation
https://www.readbyqxmd.com/read/29658931/optical-cross-sectional-muscle-area-determination-of-drosophila-melanogaster-adult-indirect-flight-muscles
#3
Estela Selma-Soriano, Rubén Artero, Beatriz Llamusi
Muscle mass wasting, known as muscle atrophy, is a common phenotype in Drosophila models of neuromuscular diseases. We have used the indirect flight muscles (IFMs) of flies, specifically the dorso-longitudinal muscles (DLM), as the experimental subject to measure the atrophic phenotype brought about by different genetic causes. In this protocol, we describe how to embed fly thorax muscles for semi thin sectioning, how to obtain a good contrast between muscle and the surrounding tissue, and how to process optical microscope images for semiautomatic acquisition of quantifiable data and analysis...
March 31, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29652986/-clinical-and-genetic-analysis-of-three-pedigrees-affected-with-myotonic-dystrophy
#4
Hongyan Huang, Xinglong Yang, Yanming Xu
OBJECTIVE: To carry out clinical and genetic analysis for three pedigrees affected with myotonic dystrophy type 1 (DM1). METHODS: Three probands with clinically diagnosed DM and their familial members were recruited. Clinical data of the patients including clinical manifestations, electrocardiogram (ECG), and electromyogram (EEG) was collected. RESULTS: The clinical symptoms of all probands have progressed slowly and included myotonia, muscle weakness and muscle atrophy as the main manifestations...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29651162/quantitative-methods-to-monitor-rna-biomarkers-in-myotonic-dystrophy
#5
Marzena Wojciechowska, Krzysztof Sobczak, Piotr Kozlowski, Saam Sedehizadeh, Agnieszka Wojtkowiak-Szlachcic, Karol Czubak, Robert Markus, Anna Lusakowska, Anna Kaminska, J David Brook
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in affected genes. The abnormal expansion of CTG repeats in the 3'-UTR of the DMPK gene elicits DM1, whereas elongated CCTG repeats in intron 1 of ZNF9/CNBP triggers DM2. Pathogenesis of both disorders is manifested by nuclear retention of expanded repeat-containing RNAs and aberrant alternative splicing. The precise determination of absolute numbers of mutant RNA molecules is important for a better understanding of disease complexity and for accurate evaluation of the efficacy of therapeutic drugs...
April 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29650434/importance-of-three-dimensional-speckle-tracking-in-the-assessment-of-left-atrial-and-ventricular-dysfunction-in-patients-with-myotonic-dystrophy-type-1
#6
Henrique Guedes, Nuno Moreno, Rui Pontes Dos Santos, Leonor Marques, Daniel Seabra, Adriana Pereira, Aurora Andrade, Paula Pinto
INTRODUCTION AND AIM: Myotonic dystrophy type 1 (DM1) is a multisystem disease in which cardiac involvement is common. The aim of this study was to identify early changes in left atrial (LA) mechanics and left ventricular (LV) systolic function in patients with myotonic dystrophy type 1 using three-dimensional (3D) speckle tracking echocardiography (3D-STE). METHODS: This observational study included 25 patients with DM1 and 25 healthy volunteers. We assessed LA and LV global strain parameters using 3D-STE...
April 9, 2018: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/29648621/the-mef2-transcriptional-target-dmpk-induces-loss-of-sarcomere-structure-and-cardiomyopathy
#7
Amin Damanafshan, Ies Elzenaar, Benoit Samson-Couterie, Ingeborg van der Made, Meriem Bourajjaj, Maarten M van den Hoogenhof, Henk A van Veen, Daisy I Picavet, Abdelaziz Beqqali, Elisabeth Ehler, Leon J De Windt, Yigal M Pinto, Ralph J van Oort
Aim: The pathology of heart failure is characterized by poorly contracting and dilated ventricles. At the cellular level, this is associated with lengthening of individual cardiomyocytes and loss of sarcomeres. While it is known that the transcription factor myocyte enhancer factor -2 (MEF2) is involved in this cardiomyocyte remodeling, the underlying mechanism remains to be elucidated. Here, we aim to mechanistically link MEF2 target genes with loss of sarcomeres during cardiomyocyte remodeling...
April 10, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29625279/rhythm-management-in-myotonic-dystrophy-progress-but-unsettled-issues-remain
#8
EDITORIAL
William J Groh
No abstract text is available yet for this article.
April 3, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29625093/is-going-beyond-rasch-analysis-necessary-to-assess-the-construct-validity-of-a-motor-function-scale
#9
Tiffanie Guillot, Sylvain Roche, Pascal Rippert, Dalil Hamroun, Jean Iwaz, René Ecochard, Carole Vuillerot
OBJECTIVE: Examine whether a Rasch analysis is sufficient to establish the construct validity of the Motor Function Measure (MFM) and discuss whether weighting the MFM item scores would improve the MFM construct validity. DESIGN: Observational cross-sectional multicenter study. SETTING: 23 physical medicine departments, neurology departments, or reference centers for neuromuscular diseases PARTICIPANTS: 911 patients (aged 6 to 60 years) with Charcot-Marie-Tooth disease (CMT), facio-scapulo-humeral dystrophy (FSHD), or myotonic dystrophy type 1 (DM1) INTERVENTIONS: None...
April 3, 2018: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29610297/intron-retention-induced-by-microsatellite-expansions-as-a-disease-biomarker
#10
Łukasz J Sznajder, James D Thomas, Ellie M Carrell, Tammy Reid, Karen N McFarland, John D Cleary, Ruan Oliveira, Curtis A Nutter, Kirti Bhatt, Krzysztof Sobczak, Tetsuo Ashizawa, Charles A Thornton, Laura P W Ranum, Maurice S Swanson
Expansions of simple sequence repeats, or microsatellites, have been linked to ∼30 neurological-neuromuscular diseases. While these expansions occur in coding and noncoding regions, microsatellite sequence and repeat length diversity is more prominent in introns with eight different trinucleotide to hexanucleotide repeats, causing hereditary diseases such as myotonic dystrophy type 2 (DM2), Fuchs endothelial corneal dystrophy (FECD), and C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (C9-ALS/FTD)...
April 2, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29601898/qualitative-and-quantitative-aspects-of-pain-in-patients-with-myotonic-dystrophy-type-2
#11
J van Vliet, A A Tieleman, A Verrips, H Timmerman, R T M van Dongen, B G M van Engelen, O H G Wilder-Smith
Pain is a common but often ignored symptom in patients with myotonic dystrophy type 2 (DM2). In this explorative study, we assessed qualitative and quantitative aspects of pain in DM2 by means of four questionnaires and quantitative sensory testing. Both a disease control group (fibromyalgia (FMS)) and healthy controls were used to compare the results, as pain in DM2 shows many clinical similarities to pain in FMS. Thirty-four patients with genetically confirmed DM2 (71% female, mean age 54 years), 28 patients with FMS and 33 healthy controls were included, both age- and sex-matched...
March 27, 2018: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/29596556/uveal-melanoma-associated-with-myotonic-dystrophy-a-report-of-6-cases
#12
Lauren A Dalvin, Carol L Shields, Jose S Pulido, Kareem Sioufi, Victoria Cohen, Jerry A Shields
Importance: Patients with myotonic dystrophy (MD) have an increased risk of malignancy including uveal melanoma. This case series further explores the association between these 2 diseases. Objective: To describe a cohort of patients with uveal melanoma associated with MD, including a case of iris melanoma, and MD-associated uveal melanoma in relatives. Design, Setting, and Participants: Retrospective case series at 3 tertiary referral centers (Wills Eye Hospital, Philadelphia, Pennsylvania; Mayo Clinic, Rochester, Minnesota; and Moorsfields Eye Hospital, London, England), between January 1, 2000, and August 31, 2017...
March 29, 2018: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29592894/daunorubicin-reduces-mbnl1-titration-by-expanded-cug-repeat-rna-and-rescues-cardiac-dysfunctions-in-a-drosophila-model-of-myotonic-dystrophy
#13
M Chakraborty, Chantal Sellier, Michel Ney, Pascal Villa, Nicolas Charlet-Berguerand, R Artero, B Llamusi
Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder caused by expression of mutant DMPK transcripts containing expanded CUG repeats. Pathogenic RNA sequesters the muscleblind-like (MBNL) proteins, causing alterations of RNA metabolism. Cardiac dysfunction represents the second most common cause of death in DM1 patients. However, the contribution of MBNL titration in DM1 cardiac dysfunction is unclear. We overexpressed Muscleblind (Mbl), Drosophila MBNL orthologue, in cardiomyocytes of DM1 model flies and observed a rescue of heart dysfunctions, which are characteristic of these model flies and resemble cardiac defects observed in patients...
March 21, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29588063/evidence-for-a-relatively-high-proportion-of-dm2-mutations-in-a-large-group-of-polish-patients
#14
Anna Sulek, Wioletta Krysa, Marta Rajkiewicz, Anna Lusakowska, Anna Kaminska, Monika Nojszewska, Elzbieta Zdzienicka, Jolanta Kubalska, Maria Rakowicz, Walentyna Szirkowiec, Hubert Kwiecinski, Jacek Zaremba
INTRODUCTION: Myotonic dystrophies (DMs) type 1 (DM1) and type 2 (DM2) are autosomal dominant, multisystem disorders, considered the most common dystrophies in adults. DM1 and DM2 are caused by dynamic mutations in the DMPK and CNBP genes, respectively. METHODS: Molecular analyses were performed by PCR and the modified RP-PCR in patients, in their at-risk relatives and prenatal cases. RESULTS: The analysis of Polish controls revealed the range of 5-31 CTG repeats for DM1 and 110-228 bp alleles for DM2...
March 7, 2018: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29572271/effect-and-impact-of-mechanical-ventilation-in-myotonic-dystrophy-type-1-a-prospective-cohort-study
#15
Ghilas Boussaïd, Hélène Prigent, Pascal Laforet, Jean-Claude Raphaël, Djillali Annane, David Orlikowski, Frédéric Lofaso
Few studies have assessed the impact of home ventilation in patients with myotonic dystrophy type 1 (DM1) and no specific recommendations are available. We assessed the survival associated with category of home ventilation adherence of patients with DM1 followed up at a home ventilation unit using a Cox proportional hazards model. 218 patients were included; those who refused or delayed their acceptance of non-invasive ventilation were at higher risk for severe events (invasive ventilation or death) (P=0.03)...
March 23, 2018: Thorax
https://www.readbyqxmd.com/read/29572064/the-role-of-ampk-in-neuromuscular-biology-and-disease
#16
REVIEW
Athan G Dial, Sean Y Ng, Alexander Manta, Vladimir Ljubicic
AMP-activated protein kinase (AMPK) is a primary regulator of cellular metabolism. Recent studies have revealed that AMPK also mediates the maintenance and plasticity of α-motoneurons, the neuromuscular junction, and skeletal muscle. Furthermore, AMPK stimulation by either genetic, pharmacological, or physiological approaches elicits beneficial phenotypic remodeling in neuromuscular disorders (NMDs). Here, we review the role of AMPK as a governor of neuromuscular biology, and present evidence for AMPK as an effective molecular target for therapeutic pursuit in the context of the most prevalent NMDs, including Duchenne muscular dystrophy, spinal muscular atrophy, and myotonic dystrophy type 1...
March 20, 2018: Trends in Endocrinology and Metabolism: TEM
https://www.readbyqxmd.com/read/29567351/interatrial-block-to-predict-atrial-fibrillation-in-myotonic-dystrophy-type-1
#17
Vincenzo Russo, Andrea Antonio Papa, Anna Rago, Carmine Ciardiello, Marco Marano, Riccardo Proietti, Luisa Politano, Gerardo Nigro
Paroxysmal atrial fibrillation frequently occurs in Myotonic dystrophy type 1 (DM1) patients. Interatrial block is recognized as predictor of atrial arrhythmias, particularly atrial fibrillation (AF). The aim of this study was to evaluate the role of interatrial block in predicting the onset of atrial fibrillation during 2-year follow-up in DM1 patients who underwent pacemaker implantation for conduction system disorders. The study prospectively enrolled 70 DM1 patients (aged 36-69; 31 M) who underwent pacemaker implantation for cardiac rhythm abnormalities in accordance with the current guidelines...
January 31, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29551391/modelling-the-pathogenesis-of-myotonic-dystrophy-type-1-cardiac-phenotype-through-human-ipsc-derived-cardiomyocytes
#18
Paola Spitalieri, Rosa V Talarico, Silvia Caioli, Michela Murdocca, Annalucia Serafino, Marco Girasole, Simone Dinarelli, Giovanni Longo, Sabina Pucci, Annalisa Botta, Giuseppe Novelli, Cristina Zona, Ruggiero Mango, Federica Sangiuolo
Myotonic Dystrophy type 1 (DM1) is a multisystemic disease, autosomal dominant, caused by a CTG repeat expansion in DMPK gene. We assessed the appropriateness of patient-specific induced pluripotent stem cell-derived cardiomyocytes (CMs) as a model to recapitulate some aspects of the pathogenetic mechanism involving cardiac manifestations in DM1 patients. Once obtained in vitro, CMs have been characterized for their morphology and their functionality. CMs DM1 show intranuclear foci and transcript markers abnormally spliced respect to WT ones, as well as several irregularities in nuclear morphology, probably caused by an unbalanced lamin A/C ratio...
March 15, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29550152/222nd-enmc-international-workshop-myotonic-dystrophy-developing-a-european-consortium-for-care-and-therapy-naarden-the-netherlands-1-2-july-2016
#19
Libby Wood, Guillaume Bassez, Baziel van Engelen, Hanns Lochmüller, Benedikt Schoser
No abstract text is available yet for this article.
February 12, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29533949/dysautonomia-as-onset-symptom-of-myotonic-dystrophy-type-2
#20
Salvatore Rossi, Angela Romano, Anna Modoni, Francesco Perna, Valentina Rizzo, Massimo Santoro, Mauro Monforte, Maurizio Pieroni, Marco Luigetti, Maria Grazia Pomponi, Gabriella Silvestri
Myotonic dystrophy type 2 (DM2) is an autosomal dominant muscular dystrophy caused by the expansion of an intronic tetranucleotide CCTG repeat in CNBP on chromosome 3. As DM1, DM2 is a multisystem disorder affecting, beside the skeletal muscle, various other tissues, including peripheral nerves. Indeed, a subclinical involvement of peripheral nervous system has been described in several cohorts of DM2 patients, whereas DM2 patients manifesting clinical signs and/or symptoms of neuropathy have been only rarely reported...
March 13, 2018: European Neurology
keyword
keyword
3869
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"