scholarly journals The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I

2020 ◽  
Vol 9 (12) ◽  
pp. 3939
Author(s):  
Emma Koehorst ◽  
Alfonsina Ballester-Lopez ◽  
Virginia Arechavala-Gomeza ◽  
Alicia Martínez-Piñeiro ◽  
Gisela Nogales-Gadea
Keyword(s):  
Myotonic Dystrophy ◽  
Intracellular Signaling ◽  
Age Of Onset ◽  
Expression Profiles ◽  
Cardiac Conduction ◽  
Type I ◽  
Myotonic Dystrophy Type ◽  
Intercellular Signaling ◽  
Disease Manifestation ◽  
Bodily Fluids

MicroRNAs (miRNAs) are mostly known for their gene regulation properties, but they also play an important role in intercellular signaling. This means that they can be found in bodily fluids, giving them excellent biomarker potential. Myotonic Dystrophy type I (DM1) is the most frequent autosomal dominant muscle dystrophy in adults, with an estimated prevalence of 1:8000. DM1 symptoms include muscle weakness, myotonia, respiratory failure, cardiac conduction defects, cataracts, and endocrine disturbances. Patients display heterogeneity in both age of onset and disease manifestation. No treatment or cure currently exists for DM1, which shows the necessity for a biomarker that can predict disease progression, providing the opportunity to implement preventative measures before symptoms arise. In the past two decades, extensive research has been conducted in the miRNA expression profiles of DM1 patients and their biomarker potential. Here we review the current state of the field with a tissue-specific focus, given the multi-systemic nature of DM1 and the intracellular signaling role of miRNAs.

scholarly journals Author response: Straightjacket/α2δ3 deregulation is associated with cardiac conduction defects in myotonic dystrophy type 1

2019 ◽  
Author(s):  
Emilie Auxerre-Plantié ◽  
Masayuki Nakamori ◽  
Yoan Renaud ◽  
Aline Huguet ◽  
Caroline Choquet ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cardiac Conduction ◽  
Author Response ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

Cognitive Decline and White Matter Integrity Degradation in Myotonic Dystrophy Type I

2020 ◽  
Author(s):  
Maria Margarita Lopez‐Titla ◽  
Amanda Chirino ◽  
Sara Vanessa Cruz Solis ◽  
Carlos R. Hernandez‐Castillo ◽  
Rosalinda Diaz ◽  
...  
Keyword(s):  
White Matter ◽  
Cognitive Decline ◽  
Myotonic Dystrophy ◽  
White Matter Integrity ◽  
Type I ◽  
Myotonic Dystrophy Type

scholarly journals Mexiletine in myotonic dystrophy type-1

Neurology ◽  
2020 ◽  
pp. 10.1212/WNL.0000000000011002
Author(s):  
Chad Heatwole ◽  
Elizabeth Luebbe ◽  
Spencer Rosero ◽  
Katy Eichinger ◽  
William Martens ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cardiac Conduction ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Walk Distance ◽  
Hand Grip ◽  
Minute Walk Distance ◽  
Minute Walk

ObjectiveTo assess mexiletine's long-term safety and effect on 6 minute walk distance in a well-defined cohort of myotonic dystrophy type-1 (DM1) patients.MethodsWe performed a randomized, double-blind, placebo-controlled trial of mexiletine (150 mg 3 times daily) to evaluate its efficacy and safety in a homogenous cohort of adult ambulatory DM1 patients. The primary outcome was change in 6-minute walk distance at 6 months. Secondary outcomes included changes in hand grip myotonia, strength, swallowing, forced vital capacity, lean muscle mass, Myotonic Dystrophy Health Index scores, and 24-hour Holter and EKG results at 3 and 6 months.ResultsForty-two participants were randomized and 40 completed the 6-month follow-up (n = 20 in both groups). No significant effects of mexiletine were observed on 6-minute walk distance, but hand grip myotonia was improved with mexiletine treatment. There were no differences between the mexiletine and placebo groups with respect to the frequency or type of adverse events. Changes in PR, QRS, and QTc intervals were similar in mexiletine and placebo-treated participants.ConclusionsThere was no benefit of mexiletine on six-minute walk distance at 6 months. Although mexiletine had a sustained positive effect on objectively measured hand grip myotonia, this was not seen in measures reflecting participants' perceptions of their myotonia. No effects of mexiletine on cardiac conduction parameters were seen over the 6-month follow-up period.Classification of evidenceThis study provides Class I evidence that for ambulatory patients with DM1 mexiletine does not significantly change six-minute walk distance at 6 months.

Strength-Training Induces Skeletal Muscle Adaptations in Patients with Myotonic Dystrophy Type I

2016 ◽  
Vol 48 ◽  
pp. 641 ◽  
Author(s):  
Marie-Pier Roussel ◽  
Marika Morin ◽  
Émile Petitclerc ◽  
Anne-Marie Fortin ◽  
Cynthia Gagnon ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Strength Training ◽  
Myotonic Dystrophy ◽  
Type I ◽  
Myotonic Dystrophy Type ◽  
Muscle Adaptations ◽  
Skeletal Muscle Adaptations

scholarly journals Detection of Slipped-DNAs at the Trinucleotide Repeats of the Myotonic Dystrophy Type I Disease Locus in Patient Tissues

PLoS Genetics ◽  
2013 ◽  
Vol 9 (12) ◽  
pp. e1003866 ◽  
Author(s):  
Michelle M. Axford ◽  
Yuh-Hwa Wang ◽  
Masayuki Nakamori ◽  
Maria Zannis-Hadjopoulos ◽  
Charles A. Thornton ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Trinucleotide Repeats ◽  
Disease Locus ◽  
Type I ◽  
Myotonic Dystrophy Type

scholarly journals Cardiac Conduction Disorders as Markers of Cardiac Events in Myotonic Dystrophy Type 1

2020 ◽  
Vol 9 (17) ◽  
Author(s):  
Hideki Itoh ◽  
Takashi Hisamatsu ◽  
Takuhisa Tamura ◽  
Kazuhiko Segawa ◽  
Toshiaki Takahashi ◽  
...  
Keyword(s):  
Sudden Death ◽  
Myotonic Dystrophy ◽  
Cardiac Conduction ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Cardiac Events ◽  
Conduction Disorders ◽  
Qrs Duration

Background Myotonic dystrophy type 1 involves cardiac conduction disorders. Cardiac conduction disease can cause fatal arrhythmias or sudden death in patients with myotonic dystrophy type 1. Methods and Results This study enrolled 506 patients with myotonic dystrophy type 1 (aged ≥15 years; >50 cytosine‐thymine‐guanine repeats) and was treated in 9 Japanese hospitals for neuromuscular diseases from January 2006 to August 2016. We investigated genetic and clinical backgrounds including health care, activities of daily living, dietary intake, cardiac involvement, and respiratory involvement during follow‐up. The cause of death or the occurrence of composite cardiac events (ie, ventricular arrhythmias, advanced atrioventricular blocks, and device implantations) were evaluated as significant outcomes. During a median follow‐up period of 87 months (Q1–Q3, 37–138 months), 71 patients expired. In the univariate analysis, pacemaker implantations (hazard ratio [HR], 4.35; 95% CI, 1.22–15.50) were associated with sudden death. In contrast, PQ interval ≥240 ms, QRS duration ≥120 ms, nutrition, or respiratory failure were not associated with the incidence of sudden death. The multivariable analysis revealed that a PQ interval ≥240 ms (HR, 2.79; 95% CI, 1.9–7.19, P <0.05) or QRS duration ≥120 ms (HR, 9.41; 95% CI, 2.62–33.77, P < 0.01) were independent factors associated with a higher occurrence of cardiac events than those observed with a PQ interval <240 ms or QRS duration <120 ms; these cardiac conduction parameters were not related to sudden death. Conclusions Cardiac conduction disorders are independent markers associated with cardiac events. Further investigation on the prediction of occurrence of sudden death is warranted.

scholarly journals Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1

2019 ◽  
Vol 9 (5) ◽  
pp. 443-454 ◽  
Author(s):  
Nicholas E. Johnson ◽  
Eugenio Zapata Aldana ◽  
Nathalie Angeard ◽  
Tetsuo Ashizawa ◽  
Kiera N. Berggren ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Age Of Onset ◽  
Clinical Care ◽  
Nominal Group Technique ◽  
Nominal Group ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Childhood Onset ◽  
Single Text

Purpose of reviewMyotonic dystrophy type 1 is a multisystemic disorder caused by a noncoding triplet repeat. The age of onset is variable across the lifespan, but in its most severe form, the symptoms appear at birth (congenital myotonic dystrophy) or in the pediatric age range (childhood-onset myotonic dystrophy). These children have a range of disabilities that reduce the lifespan and cause significant morbidity. Currently, there are no agreed upon recommendations for caring for these children.Recent findingsThe Myotonic Dystrophy Foundation recruited 11 international clinicians who are experienced with congenital and childhood-onset myotonic dystrophy to create consensus-based care recommendations. The experts used a 2-step methodology using elements of the single text procedure and nominal group technique. Completion of this process has led to the development of clinical care recommendations for this population.SummaryChildren with myotonic dystrophy often require monitoring and interventions to improve the lifespan and quality of life. The resulting recommendations are intended to standardize and improve the care of children with myotonic dystrophy.

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