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Oculopharyngeal muscular dystrophy

Sarah Youssof, Carol Romero-Clark, Teddy Warner, Emily Plowman
INTRODUCTION: The Swallowing Quality of Life instrument (SWAL-QOL) is a patient-reported outcome (PRO) measure of swallowing-related quality of life (SR-QoL). Its psychometric properties in oculopharyngeal muscular dystrophy (OPMD) are not known. METHODS: We administered the SWAL-QOL to U.S. OPMD Registry participants. We described SR-QoL profiles and assessed reliability and validity. RESULTS: Mean composite score in 113 individuals with OPMD was 54...
October 19, 2016: Muscle & Nerve
Hadas Newman, Sergiu C Blumen, Itzhak Braverman, Rana Hanna, Beatrice Tiosano, Ido Perlman, Tamar Ben-Yosef
Purpose: To investigate the genetic basis for severe visual complaints by Bukharan Jewish patients with oculopharyngeal muscular dystrophy (OPMD). Methods: Polymerase chain reaction amplification and direct sequencing were used to test for NRL, PABPN1, and NR2E3 mutations. Complete ophthalmic examination included best-corrected visual acuity, biomicroscopic examination, optical coherence tomography, and fundus autofluorescence. Detailed electroretinography (ERG) testing was conducted including expanded International Society for Clinical Electrophysiology of Vision protocol for light-adapted and dark-adapted conditions, measurements of S-cone function, and ON-OFF light-adapted ERG...
October 1, 2016: Investigative Ophthalmology & Visual Science
Pierre Klein, Martine Oloko, Fanny Roth, Valérie Montel, Alberto Malerba, Susan Jarmin, Teresa Gidaro, Linda Popplewell, Sophie Perie, Jean Lacau St Guily, Pierre de la Grange, Michael N Antoniou, George Dickson, Gillian Butler-Browne, Bruno Bastide, Vincent Mouly, Capucine Trollet
A short abnormal polyalanine expansion in the polyadenylate-binding protein nuclear-1 (PABPN1) protein causes oculopharyngeal muscular dystrophy (OPMD). Mutated PABPN1 proteins accumulate as insoluble intranuclear aggregates in muscles of OPMD patients. While the roles of PABPN1 in nuclear polyadenylation and regulation of alternative poly(A) site choice have been established, the molecular mechanisms which trigger pathological defects in OPMD and the role of aggregates remain to be determined. Using exon array, for the first time we have identified several splicing defects in OPMD...
August 9, 2016: Nucleic Acids Research
Muhammad Riaz, Yotam Raz, Barbara van der Slujis, George Dickson, Baziel van Engelen, John Vissing, Vered Raz
Molecular biomarkers emerge as an accurate diagnostic tool, but are scarce for myopathies. Lack of outcome measures sensitive to disease onset and symptom severity hamper evaluation. Cytokines are circulating immunogenic molecules, and their potential as biomarkers has been exploited in the last decade. Cytokines are released from many tissues, including skeletal muscles, but their application to monitor muscle pathology is sparse. We reported that the cytokine functional group is altered in the transcriptome of Oculopharyngeal muscular dystrophy (OPMD)...
August 9, 2016: Human Molecular Genetics
A V Marusin, Kh A Kurtanov, N R Maksimova, M G Svarovskaya, V A Stepanov
Oculopharyngeal muscular dystrophy (OPMD) is a hereditary neuromuscular disease with autosomal dominant and rarely with autosomal recessive inheritance types. This study included 50 patients with a clinical diagnosis of OPMD, 23 asymptomatic carriers of the mutation from 45 unrelated families, and 56 healthy relatives, as well as population samples of four ethnic groups of Yakutia: Yakuts, Evens, Evenks, Yukaghirs. It was found that the cause of OPMD development in all investigated families is the same increase in...
March 2016: Genetika
Shiro Matsubara, Toshio Shimizu, Takashi Komori, Madoka Mori-Yoshimura, Narihiro Minami, Yukiko K Hayashi
A middle-aged Japanese man presented with slowly progressive asymmetric weakness of legs and arm but had neither ptosis nor dysphagia. He had a family history of similar condition suggestive of autosomal dominant inheritance. A muscle biopsy showed mixture of neurogenic atrophy and myopathy with rimmed vacuoles. Furthermore we found intranuclear inclusions that had a fine structure mimicking that of inclusions reported in oculopharyngeal muscular dystrophy (OPMD). Immunohistochemical staining for polyadenylate-binding nuclear protein 1, which is identified within the nuclear inclusions of OPMD, demonstrated nuclear positivity in this case...
July 2016: Neuromuscular Disorders: NMD
Barbara M van der Sluijs, Hans Knoop, Gijs Bleijenberg, Baziel G M van Engelen, Nicol C Voermans
Research on oculopharyngeal muscular dystrophy focuses mainly on genetic and pathophysiological aspects. Clinically, oculopharyngeal muscular dystrophy is often considered as a disease with a relatively mild initial disease course with no or only mild functional disabilities. However the occurrence of fatigue, pain and functional impairments other than dysphagia has never been studied systematically. The aim of this study is therefore to assess the prevalence of fatigue, pain, and functional limitations, and the social participation and psychological well-being of oculopharyngeal muscular dystrophy patients...
March 2016: Neuromuscular Disorders: NMD
Evan Kalin-Hajdu, Liat Attas-Fox, Xi Huang, Isabelle Hardy, François Codère
PURPOSE: To compare the functional outcome of the polypropylene trapezoid frontalis suspension with the polypropylene modified Crawford frontalis suspension in a large cohort of patients with oculopharyngeal muscular dystrophy. METHODS: Retrospective, nonrandomized comparative case series. Patients with oculopharyngeal muscular dystrophy who underwent bilateral polypropylene frontalis suspension were selected for chart review. Main outcome measures were margin reflex distance, duration of surgery, and ptosis recurrence...
February 10, 2016: Ophthalmic Plastic and Reconstructive Surgery
Marilia Yuri Maeda, Tais Yuri Hashimoto, Isabella Christina Oliveira Neto, Luciano Rodrigues Neves
No abstract text is available yet for this article.
November 5, 2015: Brazilian Journal of Otorhinolaryngology
Matteo Garibaldi, Elena Maria Pennisi, Mirella Bruttini, Veronica Bizzarri, Elisabetta Bucci, Stefania Morino, Caterina Talerico, Antonella Stoppacciaro, Alessandra Renieri, Giovanni Antonini
A 69-year-old woman presented a dropped head, caused by severe neck extensor weakness that had started two years before. She had also developed a mild degree of dysphagia, rhinolalia, eyelid ptosis and proximal limb weakness during the last months. EMG revealed myopathic changes. Muscle MRI detected fatty infiltration in the posterior neck muscles and tongue. Muscle biopsy revealed fiber size variations, sporadic rimmed vacuoles, small scattered angulated fibers and a patchy myofibrillar network. Genetic analysis revealed homozygous (GCN)11 expansions in the PABPN1 gene that were consistent with recessive oculopharyngeal muscular dystrophy (OPMD)...
November 2015: Neuromuscular Disorders: NMD
Sofia Lourenço, Capucine Trollet, S Butler-Browne Gillian, Bertrand Friguet, Isabelle Petropoulos
There is now increasing evidence that reactive oxygen species (ROS) are signalling molecules that regulate growth, differentiation, proliferation and apoptosis, at least in physiological concentration. However, when ROS levels overcome the capacity of cellular antioxidant systems, they damage cellular components such as nucleic acids, lipids and in particular proteins, inflicting alterations to cell structure and function. Oxidation of sulfur-containing aminoacids, like cysteine and methionine, within proteins, can be repaired by specific enzymatic systems...
October 2014: Free Radical Biology & Medicine
Sarah Youssof
INTRODUCTION: Oculopharyngeal muscular dystrophy (OPMD) causes ptosis, dysphagia, and limb weakness. Health-related quality of life (HRQoL) and its relationship to physical symptoms was investigated. METHODS: The 36-item Short Form (SF-36) was completed by 89 participants in the U.S. OPMD Registry. Multiple hierarchical regression was used to determine the relative contributions of dysphagia severity and lower extremity functional impairment to the physical (PCS) and mental (MCS) components of the SF-36...
May 2016: Muscle & Nerve
Clara Maria Schutte, Cecelia M Dorfling, Riaan van Coller, Engela M Honey, Elizabeth Jansen van Rensburg
Autosomal dominantly inherited oculopharyngeal muscular dystrophy (OPMD) is caused by a trinucleotide repeat expansion in exon 1 of the polyadenylate binding protein nuclear 1 (PABPN1) gene on chromosome 14q. A large family with OPMD was recently identified in Pretoria, South Africa (SA). Molecular studies revealed a (GCG)11(GCA)3GCG or (GCN)15 mutant allele. The (GCN)15 mutation detected in this family has been described previously in families from Uruguay and Mexico as a founder effect. To our knowledge, this is the first report of an SA Afrikaner family with molecularly confirmed OPMD...
July 2015: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
Chao Shi, Xuan Huang, Bin Zhang, Dan Zhu, Huqiao Luo, Quqin Lu, Wen-Cheng Xiong, Lin Mei, Shiwen Luo
BACKGROUND: Since the identification of poly-alanine expanded poly(A) binding protein nuclear 1 (PABPN1) as the genetic cause of oculopharyngeal muscular dystrophy (OPMD), considerable progress has been made in our understanding of the pathogenesis of the disease. However, the molecular mechanisms that regulate the onset and progression of the disease remain unclear. RESULTS: In this study, we show that PABPN1 interacts with and is stabilized by heat shock protein 90 (HSP90)...
2015: PloS One
Jens Liebold, Reno Winter, Ralph Golbik, Gerd Hause, Christoph Parthier, Elisabeth Schwarz
The disease oculopharyngeal muscular dystrophy is caused by alanine codon trinucleotide expansions in the N-terminal segment of the nuclear poly(A) binding protein PABPN1. As histochemical features of the disease, intranuclear inclusions of PABPN1 have been reported. Whereas the purified N-terminal domain of PABPN1 forms fibrils in an alanine-dependent way, fibril formation of the full-length protein occurs also in the absence of alanines. Here, we addressed the question whether the stability of the RNP domain or domain swapping within the RNP domain may add to fibril formation...
November 2015: Protein Science: a Publication of the Protein Society
Danny Bergeron, Gheorghe Pal, Yves B Beaulieu, Benoit Chabot, François Bachand
The poly(A)-binding protein nuclear 1 is encoded by the PABPN1 gene, whose mutations result in oculopharyngeal muscular dystrophy, a late-onset disorder for which the molecular basis remains unknown. Despite recent studies investigating the functional roles of PABPN1, little is known about its regulation. Here, we show that PABPN1 negatively controls its own expression to maintain homeostatic levels in human cells. Transcription from the PABPN1 gene results in the accumulation of two major isoforms: an unspliced nuclear transcript that retains the 3'-terminal intron and a fully spliced cytoplasmic mRNA...
July 2015: Molecular and Cellular Biology
Fateh S Nandel, Mohan L Garg, Mohd Shafique
Oculopharyngeal muscular dystrophy (OPMD), a polyalanine myopathy, occurs due to expansion of homo-polyalanine stretch in normal polyadenylating binding protein nuclear 1 (PABPN1) protein from Ala10 to Ala11-17. Therefore, the conformational behavior of polyalanine peptides with n = 10-17, with and without terminal protecting groups, have been investigated with different starting geometries in water by molecular dynamics simulation studies. Alanine peptides are shown to give rise to unordered structure irrespective of starting geometry and not more than two residues at a stretch have the same/similar set of φ, ψ values...
May 2015: Journal of Molecular Modeling
Lisa Muniz, Lee Davidson, Steven West
Most human protein-encoding transcripts contain multiple introns that are removed by splicing. Although splicing catalysis is frequently cotranscriptional, some introns are excised after polyadenylation. Accumulating evidence suggests that delayed splicing has regulatory potential, but the mechanisms are still not well understood. Here we identify a terminal poly(A) tail as being important for a subset of intron excision events that follow cleavage and polyadenylation. In these cases, splicing is promoted by the nuclear poly(A) binding protein, PABPN1, and poly(A) polymerase (PAP)...
July 2015: Molecular and Cellular Biology
Pradeep Harish, Alberto Malerba, George Dickson, Houria Bachtarzi
Oculopharyngeal muscular dystrophy (OPMD) is a muscle-specific, late-onset degenerative disorder whereby muscles of the eyes (causing ptosis), throat (leading to dysphagia), and limbs (causing proximal limb weakness) are mostly affected. The disease is characterized by a mutation in the poly(A)-binding protein nuclear-1 (PABPN1) gene, resulting in a short GCG expansion in the polyalanine tract of PABPN1 protein. Accumulation of filamentous intranuclear inclusions in affected skeletal muscle cells constitutes the pathological hallmark of OPMD...
May 2015: Human Gene Therapy
Sarah Werling, Bertold Schrank, Alexander J Eckardt, Anja Hauburger, Marcus Deschauer, Michaela Müller
Oculopharyngeal muscular dystrophy (OPMD) is a rare cause for late-onset dysphagia. OPMD normally follows an autosomal dominant inheritance. Herein we describe a rare case of an autosomal recessive inheritance of OPMD. An 80-year-old male presented with progressive dysphagia, frequent aspiration and change of voice getting inarticulate and hoarse. Physical examination showed ptosis of the right eyelid. Endoscopic and manometric investigation revealed a nonspecific motility disorder with hypopharyngeal esophageal hypotension...
April 2015: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
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