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inclusion body myositis

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https://www.readbyqxmd.com/read/28318044/pathomechanisms-of-anti-cn1a-autoantibodies-in-sporadic-inclusion-body-myositis
#1
Nozomu Tawara, Satoshi Yamashita, Xiao Zhang, Mai Korogi, Ziwei Zhang, Tsukasa Doki, Yoshimasa Matsuo, Shunya Nakane, Yasushi Maeda, Kazuma Sugie, Naoki Suzuki, Masashi Aoki, Yukio Ando
OBJECTIVE: Sporadic inclusion body myositis (sIBM), an intractable progressive muscle disease, frequently occurs in older persons. sIBM pathogenesis may involve protein degradation dysfunction and immune abnormalities. Autoantibodies recognizing cytosolic 5'-nucleotidase 1A (cN1A) were found in plasma and serum from sIBM patients. Whether anti-cN1A autoantibodies play a pathogenic role in sIBM is controversial, however. This study investigated the pathogenic properties of anti-cN1A autoantibodies in sIBM pathogenesis...
March 20, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28318035/inclusion-body-myositis-pathogenesis-steady-progress
#2
EDITORIAL
Steven A Greenberg
No abstract text is available yet for this article.
March 20, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28283597/overlapping-features-of-polymyositis-and-inclusion-body-myositis-in-hiv-infected-patients
#3
Thomas E Lloyd, Iago Pinal-Fernandez, E Harlan Michelle, Lisa Christopher-Stine, Katherine Pak, Ned Sacktor, Andrew L Mammen
OBJECTIVE: To characterize patients with myositis with HIV infection. METHODS: All HIV-positive patients with myositis seen at the Johns Hopkins Myositis Center from 2003 to 2013 were included in this case series. Muscle biopsy features, weakness pattern, serum creatine kinase (CK) level, and anti-nucleotidase 1A (NT5C1A) status of HIV-positive patients with myositis were assessed. RESULTS: Eleven of 1,562 (0.7%) patients with myositis were HIV-positive...
March 10, 2017: Neurology
https://www.readbyqxmd.com/read/28279643/follistatin-gene-therapy-for-sporadic-inclusion-body-myositis-improves-functional-outcomes
#4
Jerry R Mendell, Zarife Sahenk, Samiah Al-Zaidy, Louise R Rodino-Klapac, Linda P Lowes, Lindsay N Alfano, Katherine Berry, Natalie Miller, Mehmet Yalvac, Igor Dvorchik, Melissa Moore-Clingenpeel, Kevin M Flanigan, Kathleen Church, Kim Shontz, Choumpree Curry, Sarah Lewis, Markus McColly, Mark J Hogan, Brian K Kaspar
Sporadic inclusion body myositis, a variant of inflammatory myopathy, has features distinct from polymyositis/dermatomyositis. The disease affects men more than women, most commonly after age 50. Clinical features include weakness of the quadriceps, finger flexors, ankle dorsiflexors, and dysphagia. The distribution of weakness is similar to Becker muscular dystrophy, where we previously reported improvement following intramuscular injection of an isoform of follistatin (FS344) by AAV1. For this clinical trial, rAAV1...
March 6, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28259850/blood-flow-restriction-training-in-clinical-musculoskeletal-rehabilitation-a-systematic-review-and-meta-analysis
#5
REVIEW
Luke Hughes, Bruce Paton, Ben Rosenblatt, Conor Gissane, Stephen David Patterson
BACKGROUND AND OBJECTIVE: Low-load exercise training with blood flow restriction (BFR) can increase muscle strength and may offer an effective clinical musculoskeletal (MSK) rehabilitation tool. The aim of this review was to systematically analyse the evidence regarding the effectiveness of this novel training modality in clinical MSK rehabilitation. DESIGN: This is a systematic review and meta-analysis of peer-reviewed literature examining BFR training in clinical MSK rehabilitation (Research Registry; researchregistry91)...
March 4, 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28221303/a-case-of-asymptomatic-inclusion-body-myositis
#6
Rey Bello, Tulio Bertorini, Kartheek Ganta, William Mays
OBJECTIVES: To present a case of asymptomatic inclusion body myositis. METHODS: The authors report a case of a 67-year-old man who presented with idiopathic hyperCKemia. Physical examination including a complete neurological evaluation was unremarkable. Systemic causes of hyperCKemia, including medication side effects, metabolic and endocrine disorders, and connective tissue disorders, were ruled out with various indicated tests. RESULTS: Two and a half years after initial consultation, the patient reported left knee pain...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28215761/fist-sign-in-inclusion-body-myositis
#7
Zen Kobayashi, Emi Fukatsu, Sakiko Itaya, Miho Akaza, Kiyobumi Ota, Yoshiyuki Numasawa, Satoru Ishibashi, Hiroyuki Tomimitsu, Shuzo Shintani
No abstract text is available yet for this article.
January 25, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28187529/physical-function-and-muscle-strength-in-sporadic-inclusion-body-myositis
#8
Anders N Jørgensen, Per Aagaard, Jakob L Nielsen, Mette Christiansen, Lars G Hvid, Ulrik Frandsen, Louise P Diederichsen
INTRODUCTION: Self-reported physical function, functional capacity, and isolated muscle function were investigated in sporadic inclusion body myositis (sIBM) patients. METHODS: SF-36 health survey and 2-min Walk test (2MWT), Timed Up & Go test (TUG), and 30-sec Chair Stand performance were evaluated. Additionally, patients were tested for knee extensor muscle strength (KinCom) and leg extension power (Nottingham Power Rig). RESULTS: TUG performance was the strongest predictor of self-reported physical function (r(2) =0...
February 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28183315/pyruvate-kinase-m2-and-the-mitochondrial-atpase-inhibitory-factor-1-provide-novel-biomarkers-of-dermatomyositis-a-metabolic-link-to-oncogenesis
#9
Fulvio Santacatterina, María Sánchez-Aragó, Marc Catalán-García, Glòria Garrabou, Cristina Nuñez de Arenas, Josep M Grau, Francesc Cardellach, José M Cuezva
BACKGROUND: Metabolic alterations play a role in the development of inflammatory myopathies (IMs). Herein, we have investigated through a multiplex assay whether proteins of energy metabolism could provide biomarkers of IMs. METHODS: A cohort of thirty-two muscle biopsies and forty plasma samples comprising polymyositis (PM), dermatomyositis (DM) and sporadic inclusion body myositis (sIBM) and control donors was interrogated with monoclonal antibodies against proteins of energy metabolism using reverse phase protein microarrays (RPPA)...
February 10, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28167851/il-1%C3%AE-induced-accumulation-of-amyloid-macroautophagy-in-skeletal-muscle-depends-on-erk
#10
Karsten Schmidt, Magdalena Wienken, Christian W Keller, Peter Balcarek, Christian Münz, Jens Schmidt
The pathology of inclusion body myositis (IBM) involves an inflammatory response and β-amyloid deposits in muscle fibres. It is believed that MAP kinases such as the ERK signalling pathway mediate the inflammatory signalling in cells. Further, there is evidence that autophagic activity plays a crucial role in the pathogenesis of IBM. Using a well established in vitro model of IBM, the autophagic pathway, MAP kinases, and accumulation of β-amyloid were examined. We demonstrate that stimulation of muscle cells with IL-1β and IFN-γ led to an increased phosphorylation of ERK...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28159418/the-role-of-p62-sqstm1-in-sporadic-inclusion-body-myositis
#11
Satoshi Nakano, Mitsuaki Oki, Hirofumi Kusaka
We examined selective autophagy against ubiquitinated protein aggregates in sporadic inclusion body myositis (s-IBM) patients. The form of autophagy requires phosphorylation of serine 403 in p62/SQSTM1 to bind to Lys63-linked ubiquitin and the binding of the p62-ubiquitinated protein conjugates to LC3. In muscle biopsy specimens from 16 s-IBM patients, we compared the distribution of p62 (aa120-440) with 1) Ser403-phosphorylated p62 (S403-pp62), 2) Lys63-linked ubiquitin and 3) LC3 in double-colour immunofluorescence microscopy...
December 29, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28153034/tdp-43-cryptic-exons-are-highly-variable-between-cell-types
#12
Yun Ha Jeong, Jonathan P Ling, Sophie Z Lin, Aneesh N Donde, Kerstin E Braunstein, Elisa Majounie, Bryan J Traynor, Katherine D LaClair, Thomas E Lloyd, Philip C Wong
BACKGROUND: TDP-43 proteinopathy is a prominent pathological feature that occurs in a number of human diseases including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and inclusion body myositis (IBM). Our recent finding that TDP-43 represses nonconserved cryptic exons led us to ask whether cell type-specific cryptic exons could exist to impact unique molecular pathways in brain or muscle. METHODS: In the present work, we investigated TDP-43's function in various mouse tissues to model disease pathogenesis...
February 2, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28122761/cytosolic-5-nucleotidase-1a-autoantibody-profile-and-clinical-characteristics-in-inclusion-body-myositis
#13
J B Lilleker, A Rietveld, S R Pye, K Mariampillai, O Benveniste, M T J Peeters, J A L Miller, M G Hanna, P M Machado, M J Parton, K R Gheorghe, U A Badrising, I E Lundberg, S Sacconi, M K Herbert, N J McHugh, B R F Lecky, C Brierley, D Hilton-Jones, J A Lamb, M E Roberts, R G Cooper, C G J Saris, G J M Pruijn, H Chinoy, B G M van Engelen
OBJECTIVES: Autoantibodies directed against cytosolic 5'-nucleotidase 1A have been identified in many patients with inclusion body myositis. This retrospective study investigated the association between anticytosolic 5'-nucleotidase 1A antibody status and clinical, serological and histopathological features to explore the utility of this antibody to identify inclusion body myositis subgroups and to predict prognosis. MATERIALS AND METHODS: Data from various European inclusion body myositis registries were pooled...
January 25, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28118525/predictors-of-reduced-health-related-quality-of-life-in-adult-patients-with-idiopathic-inflammatory-myopathies
#14
Michal Feldon, Payam Noroozi Farhadi, Hermine I Brunner, Lukasz Itert, Bob Goldberg, Abdullah Faiq, Jesse Wilkerson, Kathryn M Rose, Lisa G Rider, Frederick W Miller, Edward H Giannini
OBJECTIVE: Extensive studies on health-related quality of life (HRQOL) in idiopathic inflammatory myopathies (IIM) are lacking. Our objective was to document HRQOL and to identify factors associated with a reduced HRQOL in IIM patients. METHODS: A total of 1,715 patients (median age 49.9, 70% female, 87% Caucasian) who met probable or definite Bohan and Peter or Griggs criteria for myositis were included from the MYOVISION registry. HRQOL was ascertained via the SF-12v2® Health Survey questionnaire...
January 24, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28111778/sporadic-inclusion-body-myositis-a-myodegenerative-disease-or-an-inflammatory-myopathy
#15
REVIEW
C C Weihl, A L Mammen
Sporadic inclusion body myositis (sIBM) is an insidious late-onset progressive myopathy that typically affects patients over the age of 50. Clinically, patients develop a characteristic pattern of weakness that affects the forearm flexors and knee extensors. Muscle biopsy, often utilized in the diagnosis, demonstrates a chronic myopathy with mixed pathologies harbouring intramyofiber protein inclusions and endomysial inflammation. The co-existence of these pathologic features (that is, inflammation and protein aggregation) has divided the field of sIBM research into two opposing (albeit slowly unifying) camps regarding disease pathogenesis...
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28095296/diverse-role-of-survival-motor-neuron-protein
#16
REVIEW
Ravindra N Singh, Matthew D Howell, Eric W Ottesen, Natalia N Singh
The multifunctional Survival Motor Neuron (SMN) protein is required for the survival of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism through the formation and/or interaction with ribonucleoprotein (RNP) complexes. SMN regulates biogenesis of small nuclear RNPs, small nucleolar RNPs, small Cajal body-associated RNPs, signal recognition particles and telomerase. SMN also plays an important role in DNA repair, transcription, pre-mRNA splicing, histone mRNA processing, translation, selenoprotein synthesis, macromolecular trafficking, stress granule formation, cell signaling and cytoskeleton maintenance...
March 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28076913/use-of-intravenous-immunoglobulin-therapy-for-myositis-an-audit-in-south-australian-patients
#17
Caroline Foreman, Paul Russo, Noelene Davies, Pravin Hissaria, Susanna Proudman, Tiffany Hughes, Vidya Limaye
In South Australia, between 2000 and 2014, 57 patients with idiopathic inflammatory myositis (IIM) were treated with intravenous immunoglobulin (IVIg). We reviewed disease characteristics to determine predictors of response to therapy and IVIg dosing and duration to identify opportunities to rationalise IVIg use. Patients with dermatomyositis/polymyositis had a response rate of 77% and were more likely than inclusion body myositis to respond to therapy. Consideration should be given to the use of the lowest possible dose of IVIg and to the undertaking of trials of cessation of IVIg in patients with stable IIM...
January 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28076378/p62-pathology-model-in-the-rat-substantia-nigra-with-filamentous-inclusions-and-progressive-neurodegeneration
#18
Kasey L Jackson, Wen-Lang Lin, Sumitra Miriyala, Robert D Dayton, Manikandan Panchatcharam, Kevin J McCarthy, Monica Castanedes-Casey, Dennis W Dickson, Ronald L Klein
One of the proteins most frequently found in neuropathological lesions is the ubiquitin binding protein p62 (sequestosome 1). Post-mortem analysis of p62 is a defining diagnostic marker in several neurodegenerative diseases including amyotrophic lateral sclerosis and inclusion body myositis. Since p62 functions in protein degradation pathways including autophagy, the build-up of p62-positive inclusions suggests defects in protein clearance. p62 was expressed unilaterally in the rat substantia nigra with an adeno-associated virus vector (AAV9) in order to study p62 neuropathology...
2017: PloS One
https://www.readbyqxmd.com/read/28042944/comparison-of-serum-raav-serotype-specific-antibodies-in-patients-with-duchenne-muscular-dystrophy-becker-muscular-dystrophy-inclusion-body-myositis-or-gne-myopathy
#19
Deborah Zygmunt, Kelly E Crowe, Kevin Flanigan, Paul T Martin
Recombinant Adeno-associated virus (rAAV) is a commonly used gene therapy vector for the delivery of therapeutic transgenes in a variety of human diseases, but pre-existing serum antibodies to viral capsid proteins can greatly inhibit rAAV transduction of tissues. We have assayed serum from patients with Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (DMD), Inclusion Body Myositis (IBM), and GNE myopathy (GNE). These were compared to serum from otherwise normal human subjects to determine the extent of pre-existing serum antibodies to rAAVrh74, rAAV1, rAAV2, rAAV6, rAAV8 and rAAV9...
January 2, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28039312/sarcoplasmic-mxa-expression-a-valuable-marker-of-dermatomyositis
#20
Akinori Uruha, Atsuko Nishikawa, Rie S Tsuburaya, Kohei Hamanaka, Masataka Kuwana, Yurika Watanabe, Shigeaki Suzuki, Norihiro Suzuki, Ichizo Nishino
OBJECTIVE: To evaluate the diagnostic value of myxovirus resistance A (MxA) expression in the cytoplasm of myofibers in the diagnosis of dermatomyositis (DM). METHODS: We assessed the sensitivity and specificity of the sarcoplasmic expression of MxA in muscles with DM by immunohistochemistry in consecutive cases of DM (n = 34) and other idiopathic inflammatory myopathies (n = 120: 8 with polymyositis, 16 with anti-tRNA-synthetase antibody-associated myositis, 46 with immune-mediated necrotizing myopathy, and 50 with inclusion body myositis) and compared them with conventional pathologic hallmarks of DM, including perifascicular atrophy (PFA) and membrane attack complex (MAC) deposition on endomysial capillaries...
December 30, 2016: Neurology
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