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Inclusion body myopathy

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https://www.readbyqxmd.com/read/29131108/genetic-and-pathological-assessment-of-hnrnpa1-hnrnpa2-b1-and-hnrnpa3-in-familial-and-sporadic-amyotrophic-lateral-sclerosis
#1
Jennifer A Fifita, Katharine Y Zhang, Jasmin Galper, Kelly L Williams, Emily P McCann, Alison L Hogan, Neil Saunders, Denis Bauer, Ingrid S Tarr, Roger Pamphlett, Garth A Nicholson, Dominic Rowe, Shu Yang, Ian P Blair
BACKGROUND: Mutations in the genes encoding the heterogeneous nuclear ribonucleoproteins hnRNPA1 and hnRNPA2/B1 have been reported in a multisystem proteinopathy that includes amyotrophic lateral sclerosis (ALS) and inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia. Mutations were also described in the prion-like domain of hnRNPA1 in patients with classic ALS. Another hnRNP protein, hnRNPA3, has been found to be associated with the ALS/frontotemporal dementia protein C9orf72...
November 11, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29127544/a-brazilian-family-with-inclusion-body-myopathy-associated-with-paget-s-disease-of-bone-and-frontotemporal-dementia-linked-to-the-vcp-pgly97glu-mutation
#2
REVIEW
Samuel Katsuyuki Shinjo, Sueli Mieko Oba-Shinjo, Antonio Marcondes Lerario, Suely Kazue Nagahashi Marie
The objective of this study is to report a Brazilian patient and his family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD). A systematic review of the literature on the valosin-containing protein (VCP) mutation was also performed. The proband (patient) was initially treated as a case of possible refractory polymyositis with Paget's disease and later as an inclusion body myopathy. However, after admission to our service, and considering his personal and familial antecedents, whole exome sequencing was performed revealing valosin-containing protein (VCP) c...
November 10, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/29037990/roles-for-the-vcp-co-factors-npl4-and-ufd1-in-neuronal-function-in-drosophila-melanogaster
#3
Dwayne J Byrne, Mark J Harmon, Jeremy C Simpson, Craig Blackstone, Niamh C O'Sullivan
The VCP-Ufd1-Npl4 complex regulates proteasomal processing within cells by delivering ubiquitinated proteins to the proteasome for degradation. Mutations in VCP are associated with two neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD), and extensive study has revealed crucial functions of VCP within neurons. By contrast, little is known about the functions of Npl4 or Ufd1 in vivo. Using neuronal-specific knockdown of Npl4 or Ufd1 in Drosophila melanogaster, we infer that Npl4 contributes to microtubule organization within developing motor neurons...
October 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28970065/valosin-containing-protein-vcp-is-a-novel-iq-motif-containing-gtpase-activating-protein-1-iqgap1-interacting-protein
#4
Norimichi Itoh, Taku Nagai, Takashi Watanabe, Kentaro Taki, Toshitaka Nabeshima, Kozo Kaibuchi, Kiyofumi Yamada
Scaffold proteins play a pivotal role in making protein complexes, and organize binding partners into a functional unit to enhance specific signaling pathways. IQ motif-containing GTPase activating protein 1 (IQGAP1) is an essential protein for spine formation due to its role in scaffolding multiple signal complexes. However, it remains unclear how IQGAP1 interacts within the brain. In the present study, we screened novel IQGAP1-interacting proteins by a proteomic approach. As a novel IQGAP1-interacting protein, we identified valosin-containing protein (VCP) which is a causative gene in patients with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD)...
December 2, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28915917/translocation-of-molecular-chaperones-to-the-titin-springs-is-common-in-skeletal-myopathy-patients-and-affects-sarcomere-function
#5
Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O Fürst, Matthias Vorgerd, Wolfgang A Linke
Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to CAPN3 mutations (LGMD2A), compared to healthy control myofibers. Because the giant protein titin determines myofiber PT, we measured its molecular size and the titin-to-myosin ratio, but found no differences between myopathies and controls...
September 15, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28855174/the-euromyositis-registry-an-international-collaborative-tool-to-facilitate-myositis-research
#6
James B Lilleker, Jiri Vencovsky, Guochun Wang, Lucy R Wedderburn, Louise Pyndt Diederichsen, Jens Schmidt, Paula Oakley, Olivier Benveniste, Maria Giovanna Danieli, Katalin Danko, Nguyen Thi Phuong Thuy, Monica Vazquez-Del Mercado, Helena Andersson, Boel De Paepe, Jan L deBleecker, Britta Maurer, Liza J McCann, Nicolo Pipitone, Neil McHugh, Zoe E Betteridge, Paul New, Robert G Cooper, William E Ollier, Janine A Lamb, Niels Steen Krogh, Ingrid E Lundberg, Hector Chinoy
AIMS: The EuroMyositis Registry facilitates collaboration across the idiopathic inflammatory myopathy (IIM) research community. This inaugural report examines pooled Registry data. METHODS: Cross-sectional analysis of IIM cases from 11 countries was performed. Associations between clinical subtypes, extramuscular involvement, environmental exposures and medications were investigated. RESULTS: Of 3067 IIM cases, 69% were female. The most common IIM subtype was dermatomyositis (DM) (31%)...
August 30, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28832350/which-nonautoimmune-myopathies-are-most-frequently-misdiagnosed-as-myositis
#7
Andrew L Mammen
PURPOSE OF REVIEW: To discuss the spectrum of nonautoimmune myopathies that may be misdiagnosed as autoimmune myopathy. RECENT FINDINGS: Inherited myopathies, such as dysferlinopathy, calpainopathy, and facioscapulohumeral dystrophy may be misdiagnosed as autoimmune myopathy, especially when they have inflammatory muscle biopsies. Inclusion body myositis is frequently misdiagnosed as polymyositis when rimmed vacuoles are absent on muscle biopsy, and a careful neuromuscular evaluation is not performed...
November 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28832349/inclusion-body-myositis-advancements-in-diagnosis-pathomechanisms-and-treatment
#8
Karsten Schmidt, Jens Schmidt
PURPOSE OF REVIEW: To review new advances in inclusion body myositis (IBM) and discuss them in light of current knowledge on diagnosis, pathomechanisms, and treatment perspectives. RECENT FINDINGS: IBM is a treatment refractory inflammatory myopathy in middle-aged patients that leads to a slow, relentlessly progressive muscle weakness, and atrophy. Recent data collections suggest that mortality in IBM patients is somewhat elevated compared with the general population...
November 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28819009/the-aaa-atpase-p97-a-cellular-multitool
#9
REVIEW
Lasse Stach, Paul S Freemont
The AAA+ (ATPases associated with diverse cellular activities) ATPase p97 is essential to a wide range of cellular functions, including endoplasmic reticulum-associated degradation, membrane fusion, NF-κB (nuclear factor kappa-light-chain-enhancer of activated B cells) activation and chromatin-associated processes, which are regulated by ubiquitination. p97 acts downstream from ubiquitin signaling events and utilizes the energy from ATP hydrolysis to extract its substrate proteins from cellular structures or multiprotein complexes...
August 17, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28796006/novel-insights-of-disability-assessment-in-adult-myositis
#10
Hector Fabricio Espinosa-Ortega, Mariana Moreno-Ramirez, Helene Alexanderson
PURPOSE OF REVIEW: To review the novel development of standardized clinical outcome measures used in adult patients with idiopathic inflammatory myopathies (IIMs). A further aim was to determine what aspects of IIM are covered by these outcome measures according to the International Classification of Functioning, Disability and Health (ICF). RECENT FINDINGS: The sporadic inclusion body myositis functional assessment (sIFA) is the first diagnosis-specific patient-driven patient-reported outcome measure...
November 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28763333/recent-clinical-trials-in-idiopathic-inflammatory-myopathies
#11
Valérie Leclair, Ingrid E Lundberg
PURPOSE OF REVIEW: Idiopathic inflammatory myopathies (IIMs) are complex multisystemic autoimmune diseases. Glucocorticoids remain the cornerstone of treatment in IIM, and the benefit of additional immunosuppressors is still debated. A limited number of controlled clinical trials have been available to support treatment guidelines, but in the last year, several clinical trials have been published. In this review, the highlights of recently published and on-going clinical trials in IIM will be summarized and discussed...
November 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28738907/rig-i-expression-in-perifascicular-myofibers-is-a-reliable-biomarker-of-dermatomyositis
#12
Xavier Suárez-Calvet, Eduard Gallardo, Iago Pinal-Fernandez, Noemi De Luna, Cinta Lleixà, Jordi Díaz-Manera, Ricardo Rojas-García, Ivan Castellví, M Angeles Martínez, Josep M Grau, Albert Selva-O'Callaghan, Isabel Illa
BACKGROUND: Dermatomyositis (DM) is inflammatory myopathy or myositis characterized by muscle weakness and skin manifestations. In the differential diagnosis of DM the evaluation of the muscle biopsy is of importance among other parameters. Perifascicular atrophy in the muscle biopsy is considered a hallmark of DM. However, perifascicular atrophy is not observed in all patients with DM and, conversely, perifascicular atrophy can be observed in other myositis such as antisynthetase syndrome (ASS), complicating DM diagnosis...
July 24, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28687351/prevalence-of-anti-nt5c1a-antibodies-in-japanese-patients-with-autoimmune-rheumatic-diseases-in-comparison-with-other-patient-cohorts
#13
Yoshinao Muro, Hirotaka Nakanishi, Masahisa Katsuno, Michihiro Kono, Masashi Akiyama
BACKGROUND: Sporadic inclusion body myositis (sIBM) is usually classified as an idiopathic inflammatory myopathies. Although the diagnosis of sIBM is sometimes challenging, recent studies have shown that the autoantibodies against cytosolic 5'-nucleotidase 1A (NT5C1A) are the possible diagnostic biomarker for sIBM. Few reports have shown the frequencies of anti-NT5C1A antibodies in systemic autoimmune rheumatic diseases (SARDs) using large cohorts of SARDs. METHODS: Serum samples obtained from 314 patients including dermatomyositis (DM) (n=144), systemic lupus erythematosus (SLE) (n=50), systemic sclerosis (SSc) (n=50), Sjögren's syndrome (SS) (n=50), polymyositis (PM) (n=10) and mixed connective tissue disease (n=10), and healthy controls (n=42) in addition to 10 patients with typical sIBM were analysed for the presence of autoantibodies using full-length recombinant NT5C1A ELISA...
July 4, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28668260/-amyopathic-dermatomyositis-dm-with-anti-mda5-antibodies-associated-with-bullous-pemphigoid-sj%C3%A3-gren-syndrome-and-gastric-malt-lymphoma
#14
B Garcia, F Dabouz, L Pascal, M Gillard, P Modiano
BACKGROUND: The inflammatory myopathies are a heterogeneous group of muscle diseases and comprise polymyositis, dermatomyositis (DM), myopathies associated with cancers, necrotising myositis and inclusion body myositis. DM occasionally exhibits few or no muscular signs: i.e. hypomyopathic/amyopathic DM. Anti-MDA5 dermatomyositis (DM) is a rare form of dermatomyositis that is frequently amyopathic; the prognosis is linked mainly to pulmonary involvement. PATIENTS AND METHODS: A 69-year-old woman treated for mucosa-associated lymphoid tissue (MALT) gastric lymphoma was referred for a bullous eruption...
October 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28642454/inclusion-body-myositis-a-case-presenting-with-respiratory-failure-and-autopsy-findings-leading-to-the-hypothesis-of-a-paraneoplastic-cause
#15
Christopher Dardis, Ariel Antezana, Kurenai Tanji, Paul J Maccabee
BACKGROUND Sporadic inclusion body myositis (IBM) is the most common acquired myopathy seen in adults aged over 50 years, with a prevalence estimated at between 1 and 70 per million. Weakness of the diaphragm with loss of vital capacity is almost universal in IBM. This is almost always asymptomatic. When respiratory complications occur, they are most often due to aspiration. Respiratory failure due to diaphragmatic weakness is exceptionally rare, particularly as the presenting symptom of the disease. It is not currently considered to be a paraneoplastic syndrome...
June 23, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28637129/patient-reported-outcomes-in-gne-myopathy-incorporating-a-valid-assessment-of-physical-function-in-a-rare-disease
#16
Christina Slota, Margaret Bevans, Li Yang, Joseph Shrader, Galen Joe, Nuria Carrillo
BACKGROUND: The aim of this analysis was to evaluate the psychometric properties of three patient reported outcome (PRO) measures characterizing physical function in GNE myopathy: the Human Activity Profile, the Inclusion Body Myositis Functional Rating Scale, and the Activities-specific Balance Confidence scale. METHODS: This analysis used data from 35 GNE myopathy subjects participating in a natural history study. For construct validity, correlational and known-group analyses were between the PROs and physical assessments...
February 7, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28589170/immune-and-myodegenerative-pathomechanisms-in-inclusion-body-myositis
#17
REVIEW
Christian W Keller, Jens Schmidt, Jan D Lünemann
Inclusion Body Myositis (IBM) is a relatively common acquired inflammatory myopathy in patients above 50 years of age. Pathological hallmarks of IBM are intramyofiber protein inclusions and endomysial inflammation, indicating that both myodegenerative and inflammatory mechanisms contribute to its pathogenesis. Impaired protein degradation by the autophagic machinery, which regulates innate and adaptive immune responses, in skeletal muscle fibers has recently been identified as a potential key pathomechanism in IBM...
June 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28523201/sarcoidosis-is-it-a-possible-trigger-of-inclusion-body-myositis
#18
Ali Zakaria, Issam Turk, Kenneth Leung, Ana Capatina-Rata, Waseem Farra
Sarcoidosis is a multisystem disorder of unknown etiology, characterized pathologically by the presence of nonnecrotizing granulomatous inflammation in affected organs. Although skeletal muscle is involved in 50-80 percent of individuals with sarcoidosis, symptomatic myopathy has been shown to be a rare manifestation of the disease. Inclusion body myositis (IBM) is a rare acquired idiopathic inflammatory myopathy with the insidious onset of asymmetric and distal muscle weakness that characteristically involves the quadriceps, tibialis anterior, and forearm flexors...
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/28512218/ubiquitin-and-atp-dependent-unfoldase-activity-of-p97-vcp%C3%A2-nploc4%C3%A2-ufd1l-is-enhanced-by-a-mutation-that-causes-multisystem-proteinopathy
#19
Emily E Blythe, Kristine C Olson, Vincent Chau, Raymond J Deshaies
p97 is a "segregase" that plays a key role in numerous ubiquitin (Ub)-dependent pathways such as ER-associated degradation. It has been hypothesized that p97 extracts proteins from membranes or macromolecular complexes to enable their proteasomal degradation; however, the complex nature of p97 substrates has made it difficult to directly observe the fundamental basis for this activity. To address this issue, we developed a soluble p97 substrate-Ub-GFP modified with K48-linked ubiquitin chains-for in vitro p97 activity assays...
May 30, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28473041/diagnosis-and-management-of-immune-mediated-myopathies
#20
REVIEW
Margherita Milone
Immune-mediated myopathies (IMMs) are a heterogeneous group of acquired muscle disorders characterized by muscle weakness, elevated creatine kinase levels, and myopathic electromyographic findings. Most IMMs feature the presence of inflammatory infiltrates in muscle. However, the inflammatory exudate may be absent. Indeed, necrotizing autoimmune myopathy (NAM), also called immune-mediated necrotizing myopathy, is characterized by a necrotizing pathologic process with no or minimal inflammation in muscle. The recent discovery of antibodies associated with specific subtypes of autoimmune myopathies has played a major role in characterizing these diseases...
May 2017: Mayo Clinic Proceedings
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