A clinical and kinematic evaluation of foot drop in myotonic dystrophy type I: A pilot study

2021 ◽  
Vol 429 ◽  
pp. 119766
Author(s):  
Erica Frezza ◽  
Alessandro Manoni ◽  
Vito Errico ◽  
Rosario Rota ◽  
Giulia Greco ◽  
...  
Keyword(s):  
Pilot Study ◽  
Myotonic Dystrophy ◽  
Foot Drop ◽  
Type I ◽  
Myotonic Dystrophy Type ◽  
Kinematic Evaluation

scholarly journals Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study

2019 ◽  
Vol 7 (1) ◽  
pp. 126-131
Author(s):  
Youjin Wang ◽  
Ana Best ◽  
Roberto Fernández‐Torrón ◽  
Rotana Alsaggaf ◽  
Mikel Garcia‐Puga ◽  
...  
Keyword(s):  
Pilot Study ◽  
Telomere Length ◽  
Myotonic Dystrophy ◽  
Type I ◽  
Leukocyte Telomere Length ◽  
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

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 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 Identification of Plant-derived Alkaloids with Therapeutic Potential for Myotonic Dystrophy Type I

2016 ◽  
Vol 291 (33) ◽  
pp. 17165-17177 ◽  
Author(s):  
Ruben Herrendorff ◽  
Maria Teresa Faleschini ◽  
Adeline Stiefvater ◽  
Beat Erne ◽  
Tatiana Wiktorowicz ◽  
...  
Keyword(s):  
Small Molecules ◽  
Myotonic Dystrophy ◽  
Therapeutic Potential ◽  
Cell Model ◽  
Type I ◽  
Myotonic Dystrophy Type ◽  
Kinase Gene ◽  
Causal Treatment ◽  
Protein Kinase Gene ◽  
Dystrophia Myotonica Protein Kinase

Myotonic dystrophy type I (DM1) is a disabling neuromuscular disease with no causal treatment available. This disease is caused by expanded CTG trinucleotide repeats in the 3′ UTR of the dystrophia myotonica protein kinase gene. On the RNA level, expanded (CUG)n repeats form hairpin structures that sequester splicing factors such as muscleblind-like 1 (MBNL1). Lack of available MBNL1 leads to misregulated alternative splicing of many target pre-mRNAs, leading to the multisystemic symptoms in DM1. Many studies aiming to identify small molecules that target the (CUG)n-MBNL1 complex focused on synthetic molecules. In an effort to identify new small molecules that liberate sequestered MBNL1 from (CUG)n RNA, we focused specifically on small molecules of natural origin. Natural products remain an important source for drugs and play a significant role in providing novel leads and pharmacophores for medicinal chemistry. In a new DM1 mechanism-based biochemical assay, we screened a collection of isolated natural compounds and a library of over 2100 extracts from plants and fungal strains. HPLC-based activity profiling in combination with spectroscopic methods were used to identify the active principles in the extracts. The bioactivity of the identified compounds was investigated in a human cell model and in a mouse model of DM1. We identified several alkaloids, including the β-carboline harmine and the isoquinoline berberine, that ameliorated certain aspects of the DM1 pathology in these models. Alkaloids as a compound class may have potential for drug discovery in other RNA-mediated diseases.

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