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Andrea Antonio Papa, Paola D'Ambrosio, Roberta Petillo, Alberto Palladino, Luisa Politano
Cardiomyopathy associated with dystrophinopathies [Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-dCM) and cardiomyopathy of Duchenne/Becker (DMD/BMD) carriers] is an increasing recognized manifestation of these neuromuscular disorders and notably contributes to their morbidity and mortality. Dystrophinopathic cardiomyopathy (DCM) is the result of the dystrophin protein deficiency at the myocardium level, parallel to the deficiency occurring at the skeletal muscle level...
May 2017: Intractable & Rare Diseases Research
Animesh Tandon, John L Jefferies, Chet R Villa, Kan N Hor, Brenda L Wong, Stephanie M Ware, Zhiqian Gao, Jeffrey A Towbin, Wojciech Mazur, Robert J Fleck, Joshua J Sticka, D Woodrow Benson, Michael D Taylor
Duchenne and Becker muscular dystrophies are caused by mutations in dystrophin. Cardiac manifestations vary broadly, making prognosis difficult. Current dystrophin genotype-cardiac phenotype correlations are limited. For skeletal muscle, the reading-frame rule suggests in-frame mutations tend to yield milder phenotypes. We performed dystrophin genotype-cardiac phenotype correlations using a protein-effect model and cardiac magnetic resonance imaging. A translational model was applied to patient-specific deletion, indel, and nonsense mutations to predict exons and protein domains present within truncated dystrophin protein...
April 1, 2015: American Journal of Cardiology
Daniel Brereton, Jeffrey Plochocki, Daniel An, Jeffrey Costas, Erin Simons
The development of spinal curvature deformities is a hallmark of muscular dystrophy. While glucocorticoid treatment has been shown to prolong muscle function in dystrophic mice, its effects on the development of dystrophinopathic spinal deformation are poorly understood. In this study, we test the effects of glucocorticoid treatment on the onset of thoracolumbar kyphosis in the dystrophin-deficient mdx mouse using voluntary running exercise to exacerbate muscle fibrosis. We measure the kyphotic index, erector spinae muscle fibrosis, and vertebral bone histomorphometry in 4-month-old mdx mice in four groups: sedentary control, exercise-treated (continuous voluntary access to an activity wheel), glucocorticoid-treated, and glucocorticoid + exercise-treated...
October 10, 2012: PLoS Currents
Matteo Bovolenta, Daniela Erriquez, Emanuele Valli, Simona Brioschi, Chiara Scotton, Marcella Neri, Maria Sofia Falzarano, Samuele Gherardi, Marina Fabris, Paola Rimessi, Francesca Gualandi, Giovanni Perini, Alessandra Ferlini
The 2.2 Mb long dystrophin (DMD) gene, the largest gene in the human genome, corresponds to roughly 0.1% of the entire human DNA sequence. Mutations in this gene cause Duchenne muscular dystrophy and other milder X-linked, recessive dystrophinopathies. Using a custom-made tiling array, specifically designed for the DMD locus, we identified a variety of novel long non-coding RNAs (lncRNAs), both sense and antisense oriented, whose expression profiles mirror that of DMD gene. Importantly, these transcripts are intronic in origin and specifically localized to the nucleus and are transcribed contextually with dystrophin isoforms or primed by MyoD-induced myogenic differentiation...
2012: PloS One
Luisa Politano, Giovanni Nigro
Cardiomyopathy is an almost universal finding in boys affected by Duchenne muscular dystrophy (DMD). Myocardial changes, as a result of the lack of dystrophin, consist of cell membrane degradation, interstitial inflammation, fatty replacement and fibrosis. Dystrophinopathic cardiomyopathy generally starts as a preclinical or intermediate stage, with evolution toward advanced stages characterized by ventricle enlargement but also by symptoms and signs of heart failure (dyspnoea, peripheral edema and liver enlargement)...
May 2012: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
C Cappelletti, F Baggi, F Zolezzi, D Biancolini, O Beretta, M Severa, E M Coccia, P Confalonieri, L Morandi, M Mora, R Mantegazza, P Bernasconi
OBJECTIVES: Juvenile dermatomyositis (JDM), adult dermatomyositis, and polymyositis (PM) are idiopathic inflammatory myopathies (IIMs) characterized by muscle infiltration and specific muscle fiber alterations. They are thought to have an autoimmune etiology, but triggering factors, and how immunologic attack induces muscle weakness, remain unknown. Recent evidence suggests a key role for type I interferon (IFN)-mediated innate immunity in dermatomyositis, which we explored in JDM, dermatomyositis, and PM by gene expression profiling, and other methods...
June 14, 2011: Neurology
Francesca Magri, Alessandra Govoni, Maria Grazia D'Angelo, Roberto Del Bo, Serena Ghezzi, Gandossini Sandra, Anna Carla Turconi, Monica Sciacco, Patrizia Ciscato, Andreina Bordoni, Silvana Tedeschi, Francesco Fortunato, Valeria Lucchini, Sara Bonato, Costanza Lamperti, Domenico Coviello, Yvan Torrente, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi
Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) are allelic disorders with different clinical presentations and severity determined by mutations in the gene DMD, which encodes the sarcolemmal protein dystrophin. Diagnosis is based on clinical aspects and muscle protein analysis, followed by molecular confirmation. We revised the main aspects of the natural history of dystrophinopathies to define genotype-phenotype correlations in large patient cohorts with extended follow-up. We also specifically explored subjects carrying nucleotide substitutions in the DMD gene, a comparatively less investigated DMD/BMD subgroup...
September 2011: Journal of Neurology
R Cagliani, A Bardoni, M Sironi, F Fortunato, A Prelle, G Felisari, M C Bonaglia, M G D'Angelo, M Moggio, N Bresolin, G P Comi
Two muscle dystrophin transcripts and proteins were detected in a 17-year-old boy with a persistently elevated serum creatine kinase level. A decreased amount of full-length dystrophin and a 360 kDa polypeptide lacking the COOH-terminus were detectable in the patient's muscle biopsy; accordingly, transcript analysis revealed the expression of a wild type messenger RNA together with a shorter frameshifted one. No genomic DNA mutation was found and the presence of a somatic mosaicism was excluded. This dystrophinopathy may be caused by a novel dystrophin gene transcriptional defect, namely aberrant intraexonic splicing...
January 2003: Neuromuscular Disorders: NMD
Angelo Agretto, Luisa Politano, Eduardo Bossone, Vito R Petretta, Salvatore D'Isa, Luigia Passamano, Lucia I Comi, Raimund Erbel
Cardiac dysfunction is a primary feature in patients and female carriers of Becker muscular dystrophy (BMD). Conventional echocardiography and pulsed Doppler tissue imaging (DTI) were performed in 28 patients with BMD, in 20 female carriers, and in 38 control participants (20 men and 18 women). Left ventricular ejection fraction (LVEF) was lower in BMD patients (P <.02) and carriers (P <.02) than in normal participants. Two subgroups of BMD patients were identified: A1 = LVEF > or = 55% (n = 20) and A2 = LVEF < 55% (n = 8)...
September 2002: Journal of the American Society of Echocardiography
M Sironi, R Cagliani, U Pozzoli, A Bardoni, G P Comi, R Giorda, N Bresolin
We have analysed splicing patterns in the human dystrophin gene region encoding the rod and cysteine-rich domains in normal skeletal muscle, brain and heart tissues. Sixteen novel alternative transcripts were identified, the majority of them being present in all three tissues. Tissue-specific variants were also identified, suggesting a functional role of transcriptional diversity. Transcript analysis in dystrophinopathic autoptic and bioptic specimens revealed that pre-mRNAs secondary structure formation and relative strength of exon/exon association play little or no role in directing alternative splicing events...
April 24, 2002: FEBS Letters
A Bardoni, G Felisari, M Sironi, G Comi, M Lai, M Robotti, N Bresolin
Mental retardation is a clinical feature present in both Duchenne and Becker muscular dystrophy patients and its pathogenesis is still unknown. Dp140 is a dystrophin isoform with predominant expression during foetal brain development. Its promoter and first exon lie in the large intron between exon 44 and 45, a region that is commonly deleted in dystrophinopathic patients. We performed neuropsychological evaluation and genetic analysis of the Dp140 transcription unit on 12 Duchenne muscular dystrophy and 28 Becker muscular dystrophy patients carrying deletions in this critical region...
March 2000: Neuromuscular Disorders: NMD
S Teijeira, A Teijeiro, R Fernández, C Navarro
The immunohistochemical expression of utrophin in 80 muscle biopsies from patients with dystrophinopathies and other neuromuscular disorders is reported. All biopsy specimens were routinely studied by a battery of 12 histoenzymatic techniques, and immunohistochemistry was performed for spectrin, three domains of dystrophin and two domains of utrophin. Abnormal utrophin expression was observed in all dystrophinopathic muscles compared with normal controls or biopsy samples from several other muscular diseases...
November 1998: Acta Neuropathologica
F Gaschen, L Gaschen, G Seiler, M Welle, V B Jaunin, D G Jmaa, G Neiger-Aeschbacher, M Adé-Damilano
Three cats affected with dystrophin deficiency and hypertrophic muscular dystrophy developed peracute rhabdomyolysis with a fatal outcome. Two cats were anesthetized with isoflurane for routine procedures and did not recover properly from the anesthetic procedure. One cat was manually restrained for an echographic examination and started staggering after a short struggle; its condition worsened, and it died. Blood chemistry findings included severe hyperkalemia, hyperphosphatemia, hypocalcemia, massive increases in creatine kinase, aspartate aminotransferase, and alanine aminotransferase concentrations, and high ion gap metabolic acidosis...
March 1998: Veterinary Pathology
C Angelini, M Fanin, M P Freda, F Martinello, M Miorin, P Melacini, G Siciliano, E Pegoraro, M Rosa, G A Danieli
One hundred twenty five patients from 105 families were considered, showing in-frame intragenic deletion or duplication of the dystrophin gene and/or abnormal dystrophin on muscle biopsy. According to clinical status of patients, the affection was classified as subclinical, benign, moderate or severe. Significant decrease of dystrophin abundance was observed with increasing clinical severity (p < 0.05). Detailed clinical data were available in 68 patients in whom a long-term follow-up (6-39 years) was obtained...
October 1996: Journal of the Neurological Sciences
L Politano, V Nigro, G Nigro, V R Petretta, L Passamano, S Papparella, S Di Somma, L I Comi
OBJECTIVE: To characterize the presence and behavior of the dystrophinopathic myocardial damage in female carriers of a gene defect at the Xp21 locus of the X chromosome that causes Duchenne and Becker muscular dystrophies (DMD and BMD). DESIGN: Cohort study from April 1, 1985, to April 30, 1995, with cardiologic follow-up performed yearly for a minimum of 3 to a maximum of 10 years. SETTING: Counseling center for genetic muscular disorders...
May 1, 1996: JAMA: the Journal of the American Medical Association
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