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Oculopharyngeal muscular dystrophy

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https://www.readbyqxmd.com/read/28649424/an-alanine-expanded-pabpn1-causes-increased-utilization-of-intronic-polyadenylation-sites
#1
Tooba Abbassi-Daloii, Soheil Yousefi, Eleonora de Klerk, Laurens Grossouw, Muhammad Riaz, Peter A C 't Hoen, Vered Raz
In eukaryote genomes, the polyadenylation site marks termination of mature RNA transcripts by a poly-adenine tail. The polyadenylation site is recognized by a dynamic protein complex, among which the poly-adenine-binding protein nuclear1 plays a key role. Reduced poly-adenine-binding protein nuclear1 levels are found in aged muscles and are even lower in oculopharyngeal muscular dystrophy patients. Oculopharyngeal muscular dystrophy is a rare, late onset autosomal dominant myopathy, and is caused by an alanine expansion mutation in poly-adenine-binding protein nuclear1...
2017: NPJ Aging and Mechanisms of Disease
https://www.readbyqxmd.com/read/28590779/oculopharyngeal-muscular-dystrophy-and-inherited-retinal-dystrophy-in-bukhara-jews-due-to-linked-mutations-in-the-pabpn1-and-nrl-genes
#2
Itzhak Braverman, Sergiu C Blumen, Hadas Newman, Leah Rizel, Morad Khayat, Rana Hanna, Jean Lacau St Guily, Beatrice Tiosano, Tamar Ben-Yosef
AIM: We have previously described two unrelated Bukhara Jews (BJs) with a combination of oculopharyngeal muscular dystrophy (OPMD) and inherited retinal dystrophy (IRD), because of mutations in two linked genes: PABPN1 and NRL. Here we investigated the prevalence of the NRL mutation among BJs with OPMD. MATERIALS AND METHODS: PABPN1 and NRL mutation testing were performed by polymerase chain reaction amplification and direct sequencing on two cohorts of Bukhara Jewish patients: OPMD patients (with or without IRD) and IRD patients (without OPMD)...
July 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28575395/novel-mouse-models-of-oculopharyngeal-muscular-dystrophy-opmd-reveal-early-onset-mitochondrial-defects-and-suggest-loss-of-pabpn1-may-contribute-to-pathology
#3
Katherine E Vest, Brittany L Phillips, Ayan Banerjee, Luciano H Apponi, Eric B Dammer, Weiting Xu, Dinghai Zheng, Julia Yu, Bin Tian, Grace K Pavlath, Anita H Corbett
Oculopharyngeal muscular dystrophy (OPMD) is a late onset disease caused by polyalanine expansion in the poly(A) binding protein nuclear 1 (PABPN1). Several mouse models have been generated to study OPMD; however, most of these models have employed transgenic overexpression of alanine-expanded PABPN1. These models do not recapitulate the OPMD patient genotype and PABPN1 overexpression could confound molecular phenotypes. We have developed a knock-in mouse model of OPMD (Pabpn1+/A17) that contains one alanine-expanded Pabpn1 allele under the control of the native promoter and one wild-type Pabpn1 allele...
May 29, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28571954/optimization-of-oculopharyngeal-muscular-dystrophy-genetic-diagnostic-and-its-application-in-the-analysis-of-a-family-pedigree-from-la-palma-island-canary-islands-spain
#4
Nuba Zamora-Jordán, Mariano Hernández, José A Pérez
No abstract text is available yet for this article.
May 29, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28472864/what-lurks-in-the-mind-of-someone-with-dysphagia
#5
EDITORIAL
Edward J Kasarskis
No abstract text is available yet for this article.
May 4, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28361972/pabpn1-gene-therapy-for-oculopharyngeal-muscular-dystrophy
#6
A Malerba, P Klein, H Bachtarzi, S A Jarmin, G Cordova, A Ferry, V Strings, M Polay Espinoza, K Mamchaoui, S C Blumen, J Lacau St Guily, V Mouly, M Graham, G Butler-Browne, D A Suhy, C Trollet, G Dickson
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and nuclear aggregates in skeletal muscles. OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that results in an N-terminal expanded polyalanine tract in polyA-binding protein nuclear 1 (PABPN1). Here we show that the treatment of a mouse model of OPMD with an adeno-associated virus-based gene therapy combining complete knockdown of endogenous PABPN1 and its replacement by a wild-type PABPN1 substantially reduces the amount of insoluble aggregates, decreases muscle fibrosis, reverts muscle strength to the level of healthy muscles and normalizes the muscle transcriptome...
March 31, 2017: Nature Communications
https://www.readbyqxmd.com/read/28303574/functional-impact-of-an-oculopharyngeal-muscular-dystrophy-mutation-in-pabpn1
#7
Maricela García-Castañeda, Ana Victoria Vega, Rocío Rodríguez, Maria Guadalupe Montiel-Jaen, Bulmaro Cisneros, Angel Zarain-Herzberg, Guillermo Avila
KEY POINTS: Mutations in the gene encoding poly(A)-binding protein nuclear 1 (PABPN1) result in oculopharyngeal muscular dystrophy (OPMD). This disease is of late-onset, but the underlying mechanism is unclear. Ca(2+) stimulates muscle growth and contraction and, because OPMD courses with muscle atrophy and weakness, we hypothesized that the homeostasis of Ca(2+) is altered in this disorder. C2C12 myotubes were transfected with cDNAs encoding either PABPN1 or the PABPN1-17A OPMD mutation...
July 1, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28246169/expanded-polyalanine-tracts-function-as-nuclear-export-signals-and-promote-protein-mislocalization-via-eef1a1-factor
#8
Li Li, Nelson Ka Lam Ng, Alex Chun Koon, Ho Yin Edwin Chan
Polyalanine (poly(A)) diseases are caused by the expansion of translated GCN triplet nucleotide sequences encoding poly(A) tracts in proteins. To date, nine human disorders have been found to be associated with poly(A) tract expansions, including congenital central hypoventilation syndrome and oculopharyngeal muscular dystrophy. Previous studies have demonstrated that unexpanded wild-type poly(A)-containing proteins localize to the cell nucleus, whereas expanded poly(A)-containing proteins primarily localize to the cytoplasm...
April 7, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28011929/correlation-between-pabpn1-genotype-and-disease-severity-in-oculopharyngeal-muscular-dystrophy
#9
Pascale Richard, Capucine Trollet, Tanya Stojkovic, Alix de Becdelievre, Sophie Perie, Jean Pouget, Bruno Eymard
OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear 1. We hypothesized a potential correlation between the size of the (GCN)n expansion and the severity of the phenotype. To do this, we characterized the distribution of the genotypes as well as their correlation with age at diagnosis and phenotypical features in a large cohort of heterozygous and homozygous patients with OPMD in France with a confirmed molecular diagnosis of PABPN1...
January 24, 2017: Neurology
https://www.readbyqxmd.com/read/27980005/characterization-of-pabpn1-expansion-mutations-in-a-large-cohort-of-mexican-patients-with-oculopharyngeal-muscular-dystrophy-opmd
#10
Marisa Cruz-Aguilar, Caroline Guerrero-de Ferran, Jose Luis Tovilla-Canales, Angel Nava-Castañeda, Juan C Zenteno
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal-dominant, adult-onset disorder defined by blepharoptosis, dysphagia, and proximal muscle weakness. OPMD arises from heterozygous expansions of a trinucleotide (GCN) tract situated at the 5' region of the polyadenylate RNA binding protein 1 (PABPN1) gene. The frequency of a particular (GCN) expansion in a given population of patients with OPMD is largely influenced by the occurrence of founder mutations. Analysis of large groups of patients with OPMD from different ethnic origins will help to estimate the relative contribution of each expanded allele to the disease...
March 2017: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://www.readbyqxmd.com/read/27854203/intranuclear-aggregates-precede-clinical-onset-in-oculopharyngeal-muscular-dystrophy
#11
B M van der Sluijs, V Raz, M Lammens, L P van den Heuvel, N C Voermans, B G M van Engelen
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) has long been characterized by a combination of bilateral ptosis and dysphagia and subsequent limb girdle weakness. The role of the typical intranuclear inclusion in the pathophysiology is unresolved. OBJECTIVE: The aim of this study was to describe the clinical and histopathological features of oculopharyngeal muscular dystrophy (OPMD). We examined this in a Dutch cohort including presymptomatic Ala-expanded-PABPN1 carriers and late symptomatic patients...
March 3, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27809552/utility-of-surgical-myotomy-in-the-dysphagia-due-to-oculopharyngeal-dystrophy
#12
M ª Asunción Acosta Mérida, Joaquín Marchena Gómez, Josefa M ª Afonso Déniz
Oculopharyngeal muscular dystrophy (OPMD), is a rare hereditary myopathy that affects mainly the levator palpebrae and the constrictor pharyngeal muscles, being able to cause severe dysphagia. It can be treated effectively by surgical cricopharyngeal myotomy, as in the case presented below.
December 2016: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/27759888/dysphagia-related-quality-of-life-in-oculopharyngeal-muscular-dystrophy-psychometric-properties-of-the-swal-qol-instrument
#13
Sarah Youssof, Carol Romero-Clark, Teddy Warner, Emily Plowman
INTRODUCTION: The Swallowing Quality of Life instrument (SWAL-QOL) is a patient-reported outcome 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: The mean composite score in 113 individuals with OPMD was 54...
July 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/27732723/homozygosity-for-a-recessive-loss-of-function-mutation-of-the-nrl-gene-is-associated-with-a-variant-of-enhanced-s-cone-syndrome
#14
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
https://www.readbyqxmd.com/read/27507886/nuclear-poly-a-binding-protein-aggregates-misplace-a-pre-mrna-outside-of-sc35-speckle-causing-its-abnormal-splicing
#15
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...
December 15, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27506982/cytokine-genes-as-potential-biomarkers-for-muscle-weakness-in-opmd
#16
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 of therapeutic developments. 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 report that the cytokine functional group is altered in the transcriptome of oculopharyngeal muscular dystrophy (OPMD)...
October 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27281858/-haplotype-analysis-of-oculopharyngeal-muscular-dystrophy-opmd-locus-in-yakutia
#17
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
https://www.readbyqxmd.com/read/27209344/nuclear-inclusions-mimicking-poly-a-binding-protein-nuclear-1-inclusions-in-a-case-of-inclusion-body-myopathy-associated-with-paget-disease-of-bone-and-frontotemporal-dementia-with-a-novel-mutation-in-the-valosin-containing-protein-gene
#18
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
https://www.readbyqxmd.com/read/26948710/the-dutch-patients-perspective-on-oculopharyngeal-muscular-dystrophy-a-questionnaire-study-on-fatigue-pain-and-impairments
#19
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
https://www.readbyqxmd.com/read/26866330/comparison-of-two-polypropylene-frontalis-suspension-techniques-in-92-patients-with-oculopharyngeal-muscular-dystrophy
#20
COMPARATIVE STUDY
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...
January 2017: Ophthalmic Plastic and Reconstructive Surgery
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