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Myotonic dystrophy

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https://www.readbyqxmd.com/read/29043641/measuring-dynamic-behavior-of-trinucleotide-repeat-tracts-in-vivo-in-saccharomyces-cerevisiae
#1
Gregory M Williams, Jennifer A Surtees
Trinucleotide repeat (TNR) tracts are inherently unstable during DNA replication, leading to repeat expansions and/or contractions. Expanded tracts are the cause of over 40 neurodegenerative and neuromuscular diseases. In this chapter, we focus on the (CNG)n repeat sequences that, when expanded, lead to Huntington's disease (HD), myotonic dystrophy type 1 (DM1), and a number of other neurodegenerative diseases. We describe a series of in vivo assays, using the model system Saccharomyces cerevisiae, to determine and characterize the dynamic behavior of TNR tracts that are in the early stages of expansion, i...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29036654/detection-of-expanded-rna-repeats-using-thermostable-group-ii-intron-reverse-transcriptase
#2
Samuel T Carrell, Zhenzhi Tang, Sabine Mohr, Alan M Lambowitz, Charles A Thornton
Cellular accumulation of repetitive RNA occurs in several dominantly-inherited genetic disorders. Expanded CUG, CCUG or GGGGCC repeats are expressed in myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), or familial amyotrophic lateral sclerosis, respectively. Expanded repeat RNAs (ER-RNAs) exert a toxic gain-of-function and are prime therapeutic targets in these diseases. However, efforts to quantify ER-RNA levels or monitor knockdown are confounded by stable structure and heterogeneity of the ER-RNA tract and background signal from non-expanded repeats...
October 3, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29029879/reduced-renal-function-in-patients-with-myotonic-dystrophy-type-1-and-the-association-to-ctg-expansion-and-other-potential-risk-factors-for-chronic-kidney-disease
#3
Annika Aldenbratt, Christopher Lindberg, Maria K Svensson
Myotonic dystrophy type 1 (DM1) affects several organs. Disease severity and age at onset are correlated to the CTG repeat expansion. The aim of this study was to assess renal function and the association to numbers of CTG repeat expansion in patients with DM1. Ninety-eight patients with DM1 were included. Glomerular filtration rate (measured GFR) was measured using iohexol clearance. Data on CTG repeats were available in 83/98 (85%) patients. The overall mGFR was 74 (16) ml/min/1.73 m(2) (range 38-134). Sixty-four patients (69%) had a mild and sixteen patients (17%) a moderate decrease in renal function (mGFR 60-89 and 30-59 ml/min/1...
August 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29021441/steakhouse-syndrome-in-myotonic-dystrophy
#4
Nobuhiko Ogasawara, Kenichiro Sato, Michiko Tsutsumiuchi, Mami Kanzaki, Yoshikazu Uesaka
A 70-year-old man with myotonic dystrophy (MD) showed repetitive vomiting and decreased food ingestion. These symptoms were caused by acute mass of steak impaction occluding the esophagus, known as "steakhouse syndrome," which may have occurred in response to esophageal functional changes following gastrointestinal involvement due to MD pathology. The occluding food was successfully removed endoscopically, and his symptoms resolved without relapse. Our case suggests that MD patients can present with "steakhouse syndrome" due to bolus food impaction occluding the esophagus as one of their gastrointestinal manifestations, which underscores the need for its consideration in MD patients presenting with similar symptoms...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28988213/management-of-pneumatosis-intestinalis-in-children-over-the-age-of-6-months-a-conservative-approach
#5
Leel Nellihela, Mohamed Mutalib, David Thompson, Kammermeier Jochen, Manasvi Upadhyaya
BACKGROUND: Pneumatosis intestinalis (PI) is an uncommon and poorly understood condition. Although it can be an incidental finding in asymptomatic individuals, it can also be secondary to life-threatening bowel ischaemia and sepsis. In premature infants, it is a pathognomonic sign of necrotising enterocolitis. There is no consensus regarding management and long-term outcome of children with PI. AIM: Review of our experience of PI in children beyond the early infantile period...
October 7, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28960187/genome-engineering-a-new-approach-to-gene-therapy-for-neuromuscular-disorders
#6
REVIEW
Christopher E Nelson, Jacqueline N Robinson-Hamm, Charles A Gersbach
For many neuromuscular disorders, including Duchenne muscular dystrophy, spinal muscular atrophy and myotonic dystrophy, the genetic causes are well known. Gene therapy holds promise for the treatment of these monogenic neuromuscular diseases, and many such therapies have made substantial strides toward clinical translation. Recently, genome engineering tools, including targeted gene editing and gene regulation, have become available to correct the underlying genetic mutations that cause these diseases. In particular, meganucleases, zinc finger nucleases, TALENs, and the CRISPR-Cas9 system have been harnessed to make targeted and specific modifications to the genome...
September 29, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28949831/mbnl-expression-in-autoregulatory-feedback-loops
#7
Patryk Konieczny, Ewa Stepniak-Konieczna, Krzysztof Sobczak
Muscleblind-like (MBNL) proteins bind to hundreds of pre- and mature mRNAs to regulate their alternative splicing, alternative polyadenylation, stability and subcellular localization. Once MBNLs are withheld from transcript regulation, cellular machineries generate products inapt for precise embryonal/adult developmental tasks and myotonic dystrophy, a devastating multi-systemic genetic disorder, develops. We have recently demonstrated that all three MBNL paralogs are capable of fine-tuning cellular content of one of the three MBNL paralogs, MBNL1, by binding to the first coding exon (e1) of its pre-mRNA...
September 26, 2017: RNA Biology
https://www.readbyqxmd.com/read/28942489/molecular-genetic-and-clinical-characterization-of-myotonic-dystrophy-type-1-patients-carrying-variant-repeats-within-dmpk-expansions
#8
Jovan Pešović, S Perić, M Brkušanin, G Brajušković, V Rakočević-Stojanović, Dušanka Savić-Pavićević
Myotonic dystrophy type 1 (DM1) is caused by a highly unstable expansion of CTG repeats in the DMPK gene. Its huge phenotypic variability cannot be explained solely by the repeat number. Recently, variant repeats within the DMPK expansions have emerged as potential disease modifiers. The frequency of variant expanded alleles was estimated in 242 DM1 patients from 174 Serbian families using repeat-primed PCR (RP-PCR). The patterns of variant repeats were determined by direct sequencing of RP-PCR or PCR products...
September 23, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28915272/receptor-and-post-receptor-abnormalities-contribute-to-insulin-resistance-in-myotonic-dystrophy-type-1-and-type-2-skeletal-muscle
#9
Laura Valentina Renna, Francesca Bosè, Sara Iachettini, Barbara Fossati, Lorenzo Saraceno, Valentina Milani, Roberto Colombo, Giovanni Meola, Rosanna Cardani
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant multisystemic disorders caused by expansion of microsatellite repeats. In both forms, the mutant transcripts accumulate in nuclear foci altering the function of alternative splicing regulators which are necessary for the physiological mRNA processing. Missplicing of insulin receptor (IR) gene (INSR) has been associated with insulin resistance, however, it cannot be excluded that post-receptor signalling abnormalities could also contribute to this feature in DM...
2017: PloS One
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#10
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28910618/ran-translation-regulated-by-muscleblind-proteins-in-myotonic-dystrophy-type-2
#11
Tao Zu, John D Cleary, Yuanjing Liu, Monica Bañez-Coronel, Jodi L Bubenik, Fatma Ayhan, Tetsuo Ashizawa, Guangbin Xia, H Brent Clark, Anthony T Yachnis, Maurice S Swanson, Laura P W Ranum
Several microsatellite-expansion diseases are characterized by the accumulation of RNA foci and RAN proteins, raising the possibility of a mechanistic connection. We explored this question using myotonic dystrophy type 2, a multisystemic disease thought to be primarily caused by RNA gain-of-function effects. We demonstrate that the DM2 CCTG⋅CAGG expansion expresses sense and antisense tetrapeptide poly-(LPAC) and poly-(QAGR) RAN proteins, respectively. In DM2 autopsy brains, LPAC is found in neurons, astrocytes, and glia in gray matter, and antisense QAGR proteins accumulate within white matter...
September 13, 2017: Neuron
https://www.readbyqxmd.com/read/28892766/the-cognitive-profile-of-myotonic-dystrophy-type-1-%C3%A2-a-systematic-review-and-meta-analysis
#12
REVIEW
Kees Okkersen, Melanie Buskes, Johannes Groenewoud, Roy P C Kessels, Hans Knoop, Baziel van Engelen, Joost Raaphorst
OBJECTIVE: To examine the cognitive profile of patients with myotonic dystrophy type 1 (DM1) on the basis of a systematic review and meta-analysis of the literature. METHODS: Embase, Medline and PsycInfo were searched for studies reporting ≥1 neuropsychological test in both DM1 patients and healthy controls. Search, data extraction and risk of bias analysis were independently performed by two authors to minimize error. Neuropsychological tests were categorized into 12 cognitive domains and effect sizes (Hedges' g) were calculated for each domain and for tests administered in ≥5 studies...
August 16, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28890289/the-myotonic-dystrophy-health-index-italian-validation-of-a-disease-specific-outcome-measure
#13
Valeria A Sansone, Andrea Lizio, Lucia Greco, Gaia Gragnano, Alice Zanolini, Marco Gualandris, Marino Iatomasi, Chad Heatwole
The Myotonic Dystrophy Health Index (MDHI) is a disease-specific, self-reported outcome measure that assesses total disease burden and 17 areas of Myotonic Dystrophy type 1 (DM1) specific health. This study translated the MDHI into Italian and validated the instrument using a cohort of Italian DM1 patients. Italian DM1 patients were interviewed regarding the form and content of the instrument. Thirty-eight DM1 patients were subsequently recruited to test the reliability and concurrent validity of the instrument by serially completing the MDHI and a battery of clinical tests...
July 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28886202/fuchs-endothelial-corneal-dystrophy-and-rna-foci-in-patients-with-myotonic-dystrophy
#14
V Vinod Mootha, Brock Hansen, Ziye Rong, Pradeep P Mammen, Zhengyang Zhou, Chao Xing, Xin Gong
Purpose: The most common cause of Fuchs' endothelial corneal dystrophy (FECD) is an intronic CTG repeat expansion in TCF4. Expanded CUG repeat RNA colocalize with splicing factor, muscleblind-like 1 (MBNL1), in nuclear foci in endothelium as a molecular hallmark. Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in the 3'-untranslated region (UTR) of DMPK. In this study, we examine for RNA-MBNL1 foci in endothelial cells of FECD subjects with DM1, test the hypothesis that DM1 patients are at risk for FECD, and determine prevalence of TCF4 and DMPK expansions in a FECD cohort...
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28881011/sarcolemmal-excitability-in-the-myotonic-dystrophies
#15
Robert Boland-Freitas, James Lee, James Howells, Christina Liang, Alastair Corbett, Garth Nicholson, Karl Ng
INTRODUCTION: Chloride conductance disturbances contribute to sarcolemmal dysfunction in type 1 (DM1) and 2 (DM2) myotonic dystrophy. Studies using muscle velocity recovery cycles (MVRCs) suggest Na(+) /K(+) -ATPase activation becomes defective in advanced DM1. We used MVRCs to investigate muscle excitability in DM1 and DM2. METHODS: MVRCs were measured for patients with mild (n = 8) and advanced DM1 (n = 11), DM2 (n = 4) and normal controls (n = 30). RESULTS: Residual supernormality after multiple conditioning stimuli was increased in DM2 and advanced DM1...
September 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28879884/global-muscular-dystrophy-research-a-25-year-bibliometric-perspective
#16
REVIEW
Shri Ram
Muscular dystrophy is a genetic disorder leading to progressive weakness of muscles caused due to dysfunction in or lack of protein in muscle cells. The prevalence of muscular dystrophy has been observed globally and is becoming a critical area of study for better health services. The purpose of the study is to analyze the research strength of muscular dystrophy using bibliographic literature. A quantitative literature analysis was carried out on muscular dystrophy from 1991 to 2015 for assessing the global research trends...
September 2017: Neurology India
https://www.readbyqxmd.com/read/28877480/a-defective-mrna-cleavage-and-polyadenylation-complex-facilitates-expansions-of-transcribed-gaa-n-repeats-associated-with-friedreich-s-ataxia
#17
Ryan J McGinty, Franco Puleo, Anna Y Aksenova, Julia A Hisey, Alexander A Shishkin, Erika L Pearson, Eric T Wang, David E Housman, Claire Moore, Sergei M Mirkin
Expansions of microsatellite repeats are responsible for numerous hereditary diseases in humans, including myotonic dystrophy and Friedreich's ataxia. Whereas the length of an expandable repeat is the main factor determining disease inheritance, recent data point to genomic trans modifiers that can impact the likelihood of expansions and disease progression. Detection of these modifiers may lead to understanding and treating repeat expansion diseases. Here, we describe a method for the rapid, genome-wide identification of trans modifiers for repeat expansion in a yeast experimental system...
September 5, 2017: Cell Reports
https://www.readbyqxmd.com/read/28874395/celf1-mediates-connexin-43-mrna-degradation-in-dilated-cardiomyopathy
#18
Kuei-Ting Chang, Ching-Feng Cheng, Pei-Chih King, Shin-Yi Liu, Guey-Shin Wang
Rationale: Downregulation of connexin 43 (Cx43), the major cardiac gap junction protein, is often associated with arrhythmia, dilated cardiomyopathy (DCM) and heart failure. However, the cause of the reduced expression remains elusive. Re-induction of a nuclear RNA-binding protein CUGBP, Elav-like family member 1 (CELF1) in the adult heart has been implicated in the cardiac pathogenesis of myotonic dystrophy type 1 (DM1). However, how elevated CELF1 level leads to cardiac dysfunction, such as conduction defect, DCM and heart failure, remains unclear...
September 5, 2017: Circulation Research
https://www.readbyqxmd.com/read/28855409/high-frequency-of-gastrointestinal-manifestations-in-myotonic-dystrophy-type-1-and-type-2
#19
James E Hilbert, Richard J Barohn, Paula R Clemens, Elizabeth A Luebbe, William B Martens, Michael P McDermott, Amy L Parkhill, Rabi Tawil, Charles A Thornton, Richard T Moxley
OBJECTIVE: To analyze gastrointestinal (GI) manifestations, their progression over time, and medications being used to treat GI symptoms in a large cohort of patients with myotonic dystrophy types 1 (DM1) and 2 (DM2). METHODS: We analyzed patient-reported data and medical records in a national registry cohort at baseline and 5 years. RESULTS: At baseline, the majority of patients reported trouble swallowing in DM1 (55%; n = 499 of 913) and constipation in DM2 (53%; n = 96 of 180)...
September 26, 2017: Neurology
https://www.readbyqxmd.com/read/28853853/bna-nc-gapmers-revert-splicing-and-reduce-rna-foci-with-low-toxicity-in-myotonic-dystrophy-cells
#20
Kassie S Manning, Ashish N Rao, Miguel Castro, Thomas A Cooper
Myotonic dystrophy type 1 (DM1) is a multisystemic disease caused by an expanded CTG repeat in the 3' UTR of the dystrophia myotonica protein kinase (DMPK) gene. Short, DNA-based antisense oligonucleotides termed gapmers are a promising strategy to degrade toxic CUG expanded repeat (CUGexp) RNA. Nucleoside analogs are incorporated to increase gapmer affinity and stability; however, some analogs also exhibit toxicity. In this study, we demonstrate that the 2',4'-BNA(NC)[NMe] (BNA(NC)) modification is a promising nucleoside analog with high potency similar to 2',4'-LNA (LNA)...
September 5, 2017: ACS Chemical Biology
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