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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
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
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
Vincenzo Russo, Andrea Antonio Papa, Anna Rago, Carmine Ciardiello Eng, Gerardo Nigro
BACKGROUND: Atrial fibrillation (AF) is a common finding in myotonic dystrophy type 1 (DM1) population. Pacemakers may facilitate the diagnosis and management of frequent subclinical asymptomatic AF episodes. OBJECTIVE: To evaluate the effect of minimal ventricular pacing (MVP) on paroxysmal AF incidence in DM1 patients during a 24-month follow-up period. METHODS: We enrolled 70 DM1 patients (age 43.4 ± 13.8; 39 F) who underwent dual chamber pacemaker implantation...
March 7, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
C Altamura, G F Mangiatordi, O Nicolotti, D Sahbani, A Farinato, F Leonetti, M R Carratù, D Conte, J-F Desaphy, P Imbrici
BACKGROUND AND PURPOSE: Despite the fact that chloride channels are involved in several physiological processes and acquired diseases, the availability of compounds selectively targeting CLC proteins is rather limited. ClC-1 channels are responsible for sarcolemma repolarization after an action potential in skeletal muscle fibers and have been associated with myotonia congenita and myotonic dystrophy as well as with other muscular physiopathological conditions. To date only a few ClC-1 blockers have been discovered, such as anthracene-9-carboxylic acid (9-AC) and niflumic acid (NFA), whereas no useful activator exists...
March 3, 2018: British Journal of Pharmacology
Pei-Ying Wang, Kuei-Ting Chang, Yu-Mei Lin, Ting-Yu Kuo, Guey-Shin Wang
The Muscleblind-like protein family (MBNL) plays an important role in regulating the transition between differentiation and pluripotency and in the pathogenesis of myotonic dystrophy type 1 (DM1), a CTG expansion disorder. How different MBNL isoforms contribute to the differentiation and are affected in DM1 has not been investigated. Here, we show that the MBNL1 cytoplasmic, but not nuclear, isoform promotes neurite morphogenesis and reverses the morphological defects caused by expanded CUG RNA. Cytoplasmic MBNL1 is polyubiquitinated by lysine 63 (K63)...
February 27, 2018: Cell Reports
Vincenzo Russo, Anna Rago, Andrea Antonio Papa, Giulia Arena, Luisa Politano, Gerardo Nigro
BACKGROUND: Atrial electromechanical delay (AEMD) is an echocardiographic parameter correlated with the onset of supraventricular arrhythmias in several clinical conditions. Inter-atrial septal pacing in the region of Bachmann's bundle (BB) has been shown to be safe and feasible in myotonic dystrophy type 1 (DM1) patients, with a low rate of sensing and pacing defects. The aim of this study was to assess the impact of temporary BB pacing compared with right atrial appendage (RAA) pacing on AEMD in DM1 patients undergoing pacemaker (PM) implantation for cardiac rhythm abnormalities...
February 27, 2018: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
Samira Ahmed, Aymen Naguib, Dmitry Tumin, Joseph D Tobias
One of the challenges during the perioperative care of patients with myotonic dystrophy is the reversal of neuromuscular blocking agents. Agents that inhibit acetylcholinesterase, such as neostigmine, may precipitate myotonia, and are therefore relatively contraindicated. Sugammadex is a novel pharmacologic agent, which encapsulates rocuronium or vecuronium, thereby reversing their effect. We report anecdotal experience with the use of sugammadex to reverse neuromuscular blockade in a patient with myotonic dystrophy...
February 2018: Cardiology Research
Yi Wei, Anna McCormick, Alex MacKenzie, Erin O'Ferrall, Shannon Venance, Jean K Mah, Kathryn Selby, Hugh J McMillan, Garth Smith, Maryam Oskoui, Gillian Hogan, Laura McAdam, Gracia Mabaya, Victoria Hodgkinson, Josh Lounsberry, Lawrence Korngut, Craig Campbell
Introduction: Patient registries serve an important role in rare disease research, particularly for the recruitment and planning of clinical trials. The Canadian Neuromuscular Disease Registry was established with the primary objective of improving the future for neuromuscular (NM) patients through the enablement and support of research into potential treatments. Methods: In this report, we discuss design and utilization of the Canadian Neuromuscular Disease Registry with special reference to the paediatric cohort currently enrolled in the registry...
February 2018: Paediatrics & Child Health
Valentine Mosbach, Lucie Poggi, David Viterbo, Marine Charpentier, Guy-Franck Richard
Trinucleotide repeat expansions involving CTG/CAG triplets are responsible for several neurodegenerative disorders, including myotonic dystrophy and Huntington's disease. Because expansions trigger the disease, contracting repeat length could be a possible approach to gene therapy for these disorders. Here, we show that a TALEN-induced double-strand break was very efficient at contracting expanded CTG repeats in yeast. We show that RAD51, POL32, and DNL4 are dispensable for double-strand break repair within CTG repeats, the only required genes being RAD50, SAE2, and RAD52...
February 20, 2018: Cell Reports
Ozgur Z Karaahmet, Fatma Balli, Ajda Bal, Eda Gurcay, Aytul Cakci
No abstract text is available yet for this article.
March 2018: Journal of Clinical Neuromuscular Disease
Yuki Omori, Takashi Kanbayashi, Aya Imanishi, Ko Tsutsui, Yohei Sagawa, Yuka S Kikuchi, Masahiro Takeshima, Kazuhisa Yoshizawa, Sachiko Uemura, Tetsuo Shimizu
Purpose: Myotonic dystrophy type 1 (DM1) is often characterized by excessive daytime sleepiness (EDS) and sleep-onset rapid eye movement periods caused by muscleblind-like protein 2. The EDS tends to persist even after treatment of sleep apnea. We measured the cerebrospinal fluid (CSF) orexin levels in DM1 patients with EDS and compared the clinical characteristics with narcolepsy type 1 and idiopathic hypersomnia (IHS) patients. Patients and methods: We measured the CSF orexin levels in 17 DM1 patients with EDS and evaluated subjective sleepiness using the Epworth Sleepiness Scale (ESS), objective sleepiness using mean sleep latency (MSL), and sleep apnea using apnea-hypopnea index (AHI)...
2018: Neuropsychiatric Disease and Treatment
Pietro Spitali, Kristina Hettne, Roula Tsonaka, Ekrem Sabir, Alexandre Seyer, Jesse B A Hemerik, Jelle J Goeman, Esther Picillo, Manuela Ergoli, Luisa Politano, Annemieke Aartsma-Rus
Muscular dystrophies are characterized by a progressive loss of muscle tissue and/or muscle function. While metabolic alterations have been described in patients'-derived muscle biopsies, non-invasive readouts able to describe these alterations are needed in order to objectively monitor muscle condition and response to treatment targeting metabolic abnormalities. We used a metabolomic approach to study metabolites concentration in serum of patients affected by multiple forms of muscular dystrophy such as Duchenne and Becker muscular dystrophies, limb-girdle muscular dystrophies type 2A and 2B, myotonic dystrophy type 1 and facioscapulohumeral muscular dystrophy...
February 14, 2018: Journal of Cellular and Molecular Medicine
Didier Lecordier, Emmanuelle Cartron, Ljiljana Jovic
INTRODUCTION: the lifestyles of people with myotonic dystrophy type 1 (DM1) are poorly understood and yet their consideration is essential for effective long-term care. The nursing care provided in the reference centers integrates the diversity clinic of this disease in interdisciplinary care, but it is more complicated from a relational point of view. The objective of this qualitative study was to understand the ways of living for a person with DM1, his body and the coping strategies developed...
February 2, 2018: Recherche en Soins Infirmiers
Shi-Lung Lin, Shao-Yao Ying
MicroRNAs (miRNAs), small single-stranded regulatory RNAs capable of interfering with intracellular messenger RNAs (mRNAs) that contain either complete or partial complementarity, are useful for the design of new therapies against cancer polymorphism and viral mutation. Numerous miRNAs have been reported to induce RNA interference (RNAi), a post-transcriptional gene-silencing mechanism. Recent evidence also indicates that they are involved in the transcriptional regulation of genome activities. They were first discovered in Caenorhabditis elegans as native RNA fragments that modulate a wide range of genetic regulatory pathways during embryonic development, and are now recognized as small gene silencers transcribed from the noncoding regions of a genome...
2018: Methods in Molecular Biology
Vilma-Lotta Lehtokari, Maria Gardberg, Katarina Pelin, Carina Wallgren-Pettersson
We present here a Finnish nemaline myopathy family with a dominant mutation in the skeletal muscle α-actin gene, p.(Glu85Lys), segregating in three generations. The index patient, a 5-year-old boy, had the typical form of nemaline myopathy with congenital muscle weakness and motor milestones delayed but reached, while his mother never had sought medical attention for her very mild muscle weakness, and his maternal grandmother had been misdiagnosed as having myotonic dystrophy. This illustrates the clinical variability in nemaline myopathy...
December 25, 2017: Neuromuscular Disorders: NMD
Hamid Hamzeiy, Doruk Savaş, Ceren Tunca, Nesli Ece Şen, Aslı Gündoğdu Eken, Irmak Şahbaz, Daniela Calini, Cinzia Tiloca, Nicola Ticozzi, Antonia Ratti, Vincenzo Silani, A Nazlı Başak
Adult-onset neurological disorders are caused and influenced by a multitude of different factors, including epigenetic modifications. Here, using an ELISA kit selected upon careful testing, we investigated global 5-methylcytosine (5-mC) levels in sporadic and familial amyotrophic lateral sclerosis (sALS and fALS), spinocerebellar ataxia types 1 and 2 (SCA1 and SCA2), Huntington's disease, Friedreich's ataxia, and myotonic dystrophy type 1. We report a significant elevation in global 5-mC levels of about 2-7% on average for sALS (p < 0...
February 9, 2018: Neuro-degenerative Diseases
Andreas Neueder, Gillian P Bates
This chapter summarises research investigating the expression of huntingtin sense and anti-sense transcripts, the effect of the mutation on huntingtin processing as well as the more global effect of the mutation on the coding and non-coding transcriptomes. The huntingtin gene is ubiquitously expressed, although expression levels vary between tissues and cell types. A SNP that affects NF-ĸB binding in the huntingtin promoter modulates the expression level of huntingtin transcripts and is associated with the age of disease onset...
2018: Advances in Experimental Medicine and Biology
Clara Fontinha, Monica Engvall, Lotta Sjögreen, Stavros Kiliaridis
Background/objectives: This study investigated the craniofacial morphology of young individuals with congenital or childhood onset myotonic dystrophy type 1 (DM1) compared to healthy subjects. The study also followed growth changes in their facial morphology over a 5-year period. Materials/methods: Lateral cephalograms of the 26 subjects (young patients with DM1 from west and south Sweden) were taken at baseline and after a 5-year period. These radiographs were compared with normal standards based on healthy individuals from the Michigan Growth Study, according to their age and sex, using paired t-tests (P < 0...
February 6, 2018: European Journal of Orthodontics
Karim Wahbi, Raphaël Porcher, Pascal Laforêt, Abdallah Fayssoil, Henri Marc Bécane, Arnaud Lazarus, Maximilien Sochala, Tanya Stojkovic, Anthony Béhin, Sarah Leonard-Louis, Pauline Arnaud, Denis Furling, Vincent Probst, Dominique Babuty, Sybille Pellieux, Nicolas Clementy, Guillaume Bassez, Yann Péréon, Bruno Eymard, Denis Duboc
Importance: Life expectancy is greatly shortened in patients presenting with myotonic dystrophy type 1 (DM1), the most common neuromuscular disease. A reliable prediction of survival in patients with DM1 is critically important to plan personalized health supervision. Objective: To develop and validate a prognostic score to predict 10-year survival in patients with DM1. Design, Setting, and Participants: In this longitudinal cohort study, between January 2000 and November 2014, we enrolled 1296 adults referred to 4 tertiary neuromuscular centers in France for management of genetically proven DM1, including 1066 patients in the derivation cohort and 230 in the validation cohort...
February 5, 2018: JAMA Neurology
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