keyword
MENU ▼
Read by QxMD icon Read
search

Inclusion body myopathy

keyword
https://www.readbyqxmd.com/read/28303975/a-conserved-inter-domain-communication-mechanism-regulates-the-atpase-activity-of-the-aaa-protein-drg1
#1
Michael Prattes, Mathias Loibl, Gertrude Zisser, Daniel Luschnig, Lisa Kappel, Ingrid Rössler, Manuela Grassegger, Altijana Hromic, Elmar Krieger, Karl Gruber, Brigitte Pertschy, Helmut Bergler
AAA-ATPases fulfil essential roles in different cellular pathways and often act in form of hexameric complexes. Interaction with pathway-specific substrate and adaptor proteins recruits them to their targets and modulates their catalytic activity. This substrate dependent regulation of ATP hydrolysis in the AAA-domains is mediated by a non-catalytic N-terminal domain. The exact mechanisms that transmit the signal from the N-domain and coordinate the individual AAA-domains in the hexameric complex are still the topic of intensive research...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28279643/follistatin-gene-therapy-for-sporadic-inclusion-body-myositis-improves-functional-outcomes
#2
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/28267778/substantial-deficiency-of-free-sialic-acid-in-muscles-of-patients-with-gne-myopathy-and-in-a-mouse-model
#3
Yiumo Michael Chan, Paul Lee, Steve Jungles, Gabrielle Morris, Jaclyn Cadaoas, Alison Skrinar, Michel Vellard, Emil Kakkis
GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA). The disease is characterized by distal muscle weakness in both the lower and upper extremities, with the quadriceps muscle relatively spared until the late stages of disease. To explore the role of SA synthesis in the disease, we conducted a comprehensive and systematic analysis of both free and total SA levels in a large cohort of GNEM patients and a mouse model...
2017: PloS One
https://www.readbyqxmd.com/read/28258125/a-drosophila-model-of-dominant-inclusion-body-myopathy-3-shows-diminished-myosin-kinetics-that-reduce-muscle-power-and-yield-myofibrillar-defects
#4
Jennifer A Suggs, Girish C Melkani, Bernadette M Glasheen, Mia M Detor, Anju Melkani, Nathan P Marsan, Douglas M Swank, Sanford I Bernstein
Inclusion body myopathy type 3 (IBM-3) patients display congenital joint contractures with early-onset muscle weakness that becomes more severe in adults. The disease arises from an autosomal dominant point mutation causing an E706K substitution in myosin heavy chain type IIa. We previously expressed the corresponding myosin mutation (E701K) in homozygous Drosophila indirect flight muscles and recapitulated the myofibrillar degeneration and inclusion bodies observed in the human disease. We also found that purified E701K myosin has dramatically reduced actin-sliding velocity and ATPase levels...
March 3, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28256728/genetic-characterization-of-a-french-cohort-of-gne-mutation-negative-inclusion-body-myopathy-patients-using-exome-sequencing
#5
Mathieu Cerino, Svetlana Gorokhova, Pascal Laforet, Rabah Ben Yaou, Emmanuelle Salort-Campana, Jean Pouget, Shahram Attarian, Bruno Eymard, Jean-François Deleuze, Anne Boland, Anthony Behin, Tanya Stojkovic, Gisele Bonne, Nicolas Levy, Marc Bartoli, Martin Krahn
INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic disorders lead to low diagnostic rates with targeted single-gene sequencing. This is true for the most prevalent form of hIBM, GNEpathy. Thus, we used whole exome sequencing (WES) to evaluate whether a cohort of clinically suspected GNEpathy patients undiagnosed by targeted GNE analysis could be genetically characterized...
March 3, 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
#6
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/28118525/predictors-of-reduced-health-related-quality-of-life-in-adult-patients-with-idiopathic-inflammatory-myopathies
#7
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
#8
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/28042944/comparison-of-serum-raav-serotype-specific-antibodies-in-patients-with-duchenne-muscular-dystrophy-becker-muscular-dystrophy-inclusion-body-myositis-or-gne-myopathy
#9
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
#10
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
https://www.readbyqxmd.com/read/28009083/proteomics-of-rimmed-vacuoles-define-new-risk-allele-in-inclusion-body-myositis
#11
Anne-Katrin Güttsches, Stefen Brady, Kathryn Krause, Alexandra Maerkens, Julian Uszkoreit, Martin Eisenacher, Anja Schreiner, Sara Galozzi, Janine Mertens-Rill, Martin Tegenthoff, Janice L Holton, Matthew B Harms, Thomas E Lloyd, Matthias Vorgerd, Conrad C Weihl, Katrin Marcus, Rudolf A Kley
OBJECTIVE: Sporadic inclusion body myositis (sIBM) pathogenesis is unknown; however, rimmed vacuoles (RVs) are a constant feature. We propose to identify proteins that accumulate within RVs. METHODS: RVs and intact myofibers were laser microdissected from skeletal muscle of 18 sIBM patients and analyzed by a sensitive mass spectrometry approach using label-free spectral count-based relative protein quantification. Whole exome sequencing was performed on 62 sIBM patients...
February 2017: Annals of Neurology
https://www.readbyqxmd.com/read/27916754/-autoantibodies-of-inflammatory-myopathies-update
#12
Shigeaki Suzuki
Inflammatory myopathies are a heterogeneous group of immune-mediated diseases that involve the skeletal muscle as well as many other organs. In addition to a histological diagnosis at muscle biopsy, the clinical phenotypes of inflammatory myopathies can be defined by the presence of various autoantibodies that are originally detected by RNA or protein immunoprecipitation. However, the correlation between histological features and autoantibodies has not been fully elucidated. Immune-mediated necrotizing myopathy (IMNM), which is characterized by significant necrotic and regeneration muscle fibers with minimal or no inflammatory cell infiltration, is associated with the presence of autoantibodies...
December 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27916753/-diagnosis-of-idiopathic-inflammatory-myopathy-a-muscle-pathology-perspective
#13
Michio Inoue, Ichizo Nishino
Idiopathic inflammatory myopathies are historically classified into polymyositis and dermatomyositis based on the presence or absence of skin lesions. Recently, however, a more histology-oriented classification into 6 subtypes has been proposed. The subtypes include dermatomyositis, polymyositis, inclusion body myositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, and non-specific myositis. With strict criteria applied, polymyositis is now extremely rare, while immune-mediated necrotizing myopathy is the most common among all inflammatory myopathies and is often associated with autoantibodies including those for signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR)...
December 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27904121/sporadic-inclusion-body-myositis-manifesting-as-isolated-muscle-weakness-of-the-finger-flexors-three-years-after-disease-onset
#14
Yuichi Suwa, Naoki Suzuki, Temma Soga, Ryuhei Harada, Aya Shibui, Hiroshi Kuroda, Rumiko Izumi, Maki Tateyama, Ichiro Nakashima, Masahiro Sonoo, Masashi Aoki
Sporadic inclusion body myositis (sIBM) is a chronic progressive myopathy characterized by muscle weakness of both the quadriceps femoris and finger flexors. We herein present the case of a typical male patient with sIBM, which manifested as the isolated weakness of the finger flexors three years after the disease onset. We have identified several patients with sIBM in our cohort with muscle weakness of the flexors but not the quadriceps femoris. Examination of the flexor digitorum profundus muscle is important for the early and proper diagnosis of sIBM, even if a patient only presents with isolated finger flexor muscle weakness...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27888415/magnetic-resonance-imaging-patterns-of-muscle-involvement-in-genetic-muscle-diseases-a-systematic-review
#15
REVIEW
Doris G Leung
A growing body of the literature supports the use of magnetic resonance imaging as a potential biomarker for disease severity in the hereditary myopathies. We performed a systematic review of the medical literature to evaluate patterns of fat infiltration observed in magnetic resonance imaging studies of muscular dystrophy and congenital myopathy. Searches were performed using MEDLINE, EMBASE, and grey literature databases. Studies that described fat infiltration of muscles in patients with muscular dystrophy or congenital myopathy were selected for full-length review...
November 25, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27861218/inclusion-body-myositis-what-most-impacts-patients-lives
#16
Cynthia Gibson, Nicholas E Johnson, Eileen Eastwood, Chad Heatwole
OBJECTIVE: Inclusion body myositis (IBM) is the most common form of idiopathic inflammatory myopathy in adults older than 50 years. Few studies have focused on the functional, physical, and social limitations of this disease. This study identifies pertinent symptoms that impact the health and daily function of patients with IBM. METHODS: We used semistructured interviews with 10 biopsy-confirmed adults with IBM to identify the psychological, physical, and functional limitations that have the greatest impact on the lives of patients with IBM...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27858337/development-and-evaluation-of-a-standardized-elisa-for-the-determination-of-autoantibodies-against-cn-1a-mup44-nt5c1a-in-sporadic-inclusion-body-myositis
#17
Sabine L Kramp, Dmitry Karayev, Guo Shen, Allan L Metzger, Robert I Morris, Eugene Karayev, Yvonne Lam, Richard M Kazdan, Ger J M Pruijn, Sandra Saschenbrecker, Cornelia Dähnrich, Wolfgang Schlumberger
PURPOSE: Sporadic inclusion body myositis (sIBM) is an autoimmune degenerative disease of the muscle, with inflammatory infiltrates and inclusion vacuoles. Its pathogenesis is not fully understood and the diagnosis is hampered by its imprecise characteristics, at times indistinguishable from other idiopathic inflammatory myopathies such as polymyositis and dermatomyositis. The diagnosis may be assisted by the detection of autoantibodies targeting Mup44, a skeletal muscle antigen identified as cytosolic 5'-nucleotidase 1A (cN-1A, NT5C1A)...
December 2016: Auto- Immunity Highlights
https://www.readbyqxmd.com/read/27854208/mortality-and-causes-of-death-in-patients-with-sporadic-inclusion-body-myositis-survey-study-based-on-the-clinical-experience-of-specialists-in-australia-europe-and-the-usa
#18
Mark A Price, Victoria Barghout, Olivier Benveniste, Lisa Christopher-Stine, Alastair Corbett, Marianne de Visser, David Hilton-Jones, John T Kissel, Thomas E Lloyd, Ingrid E Lundberg, Francis Mastaglia, Tahseen Mozaffar, Merrilee Needham, Jens Schmidt, Kumaraswamy Sivakumar, Carla DeMuro, Brian S Tseng
BACKGROUND: There is a paucity of data on mortality and causes of death (CoDs) in patients with sporadic inclusion body myositis (sIBM), a rare, progressive, degenerative, inflammatory myopathy that typically affects those aged over 50 years. OBJECTIVE: Based on patient records and expertise of clinical specialists, this study used questionnaires to evaluate physicians' views on clinical characteristics of sIBM that may impact on premature mortality and CoDs in these patients...
March 3, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27799074/activation-of-the-keap1-nrf2-stress-response-pathway-in-autophagic-vacuolar-myopathies
#19
Steve Duleh, Xianhong Wang, Allison Komirenko, Marta Margeta
Nrf2 (nuclear factor [erythroid-derived 2]-like 2; the transcriptional master regulator of the antioxidant stress response) is regulated through interaction with its cytoplasmic inhibitor Keap1 (Kelch-like ECH-associated protein 1), which under basal conditions targets Nrf2 for proteasomal degradation. Sequestosome 1 (SQSTM1)/p62-a multifunctional adapter protein that accumulates following autophagy inhibition and can serve as a diagnostic marker for human autophagic vacuolar myopathies (AVMs)-was recently shown to compete with Nrf2 for Keap1 binding, resulting in activation of the Nrf2 pathway...
October 31, 2016: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/27768726/ibmpfd-disease-causing-mutant-vcp-p97-proteins-are-targets-of-autophagic-lysosomal-degradation
#20
Oznur Bayraktar, Ozlem Oral, Nur Mehpare Kocaturk, Yunus Akkoc, Karin Eberhart, Ali Kosar, Devrim Gozuacik
The ubiquitin-proteasome system (UPS) degrades soluble proteins and small aggregates, whereas macroautophagy (autophagy herein) eliminates larger protein aggregates, tangles and even whole organelles in a lysosome-dependent manner. VCP/p97 was implicated in both pathways. VCP/p97 mutations cause a rare multisystem disease called IBMPFD (Inclusion Body Myopathy with Paget's Disease and Frontotemporal Dementia). Here, we studied the role IBMPFD-related mutants of VCP/p97 in autophagy. In contrast with the wild-type VCP/p97 protein or R155C or R191Q mutants, the P137L mutant was aggregate-prone...
2016: PloS One
keyword
keyword
21767
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"