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Research 2016

Site presented by Bill Tillier.

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2016

Anti-Cytosolic 5'-Nucleotidase 1A (cN1A) Positivity in Muscle is Helpful in the Diagnosis of Sporadic Inclusion Body Myositis: A Study of 35 Japanese Patients.
Eura, N., Sugie, K., Kinugawa, K., Nanaura, H., Ohara, H., Iwasa, N., . . . Kiriyama, T. (2016). Anti-Cytosolic 5'-Nucleotidase 1A (cN1A) Positivity in Muscle is Helpful in the Diagnosis of Sporadic Inclusion Body Myositis: A Study of 35 Japanese Patients. Journal of Neurology and Neuroscience, 7(5), 1-5. http://doi.org/10.21767/2171-6625.1000155
In our study of Japanese patients with sIBM, anti-cN1A antibody positivity in muscle specimens was highly sensitive and specific pathologically. Therefore, the expression of anti-cN1A antibody may be greatly useful for the diagnosis of sIBM. Although the concurrent presence of HCV infection and heart disease was notable, other epidemiological characteristics were consistent with the results of previous studies.

Development and evaluation of a standardized ELISA for the determination of autoantibodies against cN-1A (Mup44, NT5C1A) in sporadic inclusion body myositis.
Kramp, S. L., Karayev, D., Shen, G., Metzger, A. L., Morris, R. I., Karayev, E., . . . Schlumberger, W. (2016). Development and evaluation of a standardized ELISA for the determination of autoantibodies against cN-1A (Mup44, NT5C1A) in sporadic inclusion body myositis. Autoimmunity Highlights, 7(1), 16. http://doi.org/10.1007/s13317-016-0088-8
Conclusions: Anti-cN-1A autoantibodies were detected by ELISA with moderate sensitivity, but high specificity for sIBM and may therefore help diagnose this infrequent and difficult-to-diagnose myopathy. The novel anti-cN-1A IgG ELISA can improve and accelerate the diagnosis of sIBM using sera where muscle biopsy is delayed or unfeasible.

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.
Gang, Q., Bettencourt, C., Machado, P. M., Brady, S., Holton, J. L., Pittman, A. M., . . . Houlden, H. (2016). Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiology of Aging, 47, 218.e1-218.e9. http://doi.org/10.1016/j.neurobiolaging.2016.07.024
Our findings suggest that variants in these genes constitute genetic susceptibility factors for sIBM and for other multisystem proteinopathy phenotypes. The findings from this study also expand the clinicopathologic spectrum of diseases associated with SQSTM1 and VCP genes, and the overlap between sIBM and IBMPFD, ALS, and/or FTD suggests that muscle and brain diseases share similar pathogenic pathways that may be important for further biomarkers, genes, and therapeutic target discovery.

Inclusion Body Myositis
Greenberg, S. A. (2016). Inclusion Body Myositis. Continuum (Minneapolis, Minn.), 22(6, Muscle and Neuromuscular Junction Disorders), 1871-1888. http://doi.org/10.1212/01.CON.0000511071.58338.1e
Summary: IBM has high unmet medical need. Advances in the mechanistic understanding of IBM as an autoimmune disease will drive effective therapeutic approaches. The identification of a B-cell pathway has resulted in the first identification of an IBM autoantigen and emphasized its status as an autoimmune disease. The recognition that large granular lymphocyte CD8+ T-cell expansions are present in both blood and muscle provides additional biomarkers for IBM and suggests a mechanistic relationship to the neoplastic disease T-cell large granular lymphocytic leukemia.

The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies.
Bhattarai, S., Ghannam, K., Krause, S., Benveniste, O., Marg, A., de Bruin, G., . . . Feist, E. (2016). The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies. Journal of Autoimmunity, 1-12. http://doi.org/10.1016/j.jaut.2016.08.004

Molecular treatment effects of alemtuzumab in skeletal muscles of patients with IBM.
Schmidt, K., Kleinschnitz, K., Rakocevic, G., Dalakas, M. C., & Schmidt, J. (2016). Molecular treatment effects of alemtuzumab in skeletal muscles of patients with IBM. BMC Neurology, 16, 48. http://doi.org/10.1186/s12883-016-0568-5

Patent Application, Methods of treating sporadic inclusion body myositis.

What are Autoantibodies and how do they work in Myositis?

ANTI- C N1A ANTIBODIES IN SOUTH AUSTRALIAN PATIENTS WITH INCLUSION BODY MYOSITIS
Limaye, V. S., Lester, S., Blumbergs, P., & Greenberg, S. A. (2016). Anti- C N1A antibodies in South Australian patients with inclusion body myositis. Muscle & Nerve, 53(4), 654-655. http://doi.org/10.1002/mus.24989

New developments in genetics of myositis
Rothwell, S., Lamb, J. A., & Chinoy, H. (2016). New developments in genetics of myositis. Current Opinion in Rheumatology, 1. http://doi.org/10.1097/BOR.0000000000000328

Disease specificity of autoantibodies to cytosolic 5' -nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases
Herbert, M. K., Stammen-Vogelzangs, J., Verbeek, M. M., Rietveld, A., Lundberg, I. E., Chinoy, H., . . . Pruijn, G. J. M. (2016). Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases. Annals of the Rheumatic Diseases, 75(4), 696-701. http://doi.org/10.1136/annrheumdis-2014-206691

Cytotoxic T cells go awry in inclusion body myositis
An editorial by Reinhard Hohlfeld
Hohlfeld, R., & Schulze-Koops, H. (2016). Cytotoxic T cells go awry in inclusion body myositis. Brain, 139(5), 1312-1314. http://doi.org/10.1093/brain/aww053

Association of inclusion body myositis with T cell large granular lymphocytic leukaemia
Greenberg, S. A., Pinkus, J. L., Amato, A. A., Kristensen, T., & Dorfman, D. M. (2016). Association of inclusion body myositis with T cell large granular lymphocytic leukaemia. Brain, 139(5), 1348-1360. http://doi.org/10.1093/brain/aww024

Discussion of the Above Paper on Sporadic Inclusion Body Myositis.

A PROTOCOL TO DEVELOP CLINICAL GUIDELINES FOR INCLUSION BODY MYOSITIS
Jones, K. L., Sejersen, T., Amato, A. A., Hilton-Jones, D., Schmidt, J., Wallace, A. C., . . . Rose, M. R. (2016). A protocol to develop clinical guidelines for inclusion body myositis. Muscle & Nerve, n/a-n/a. http://doi.org/10.1002/mus.25036

Treatment for inclusion body myositis (Cochrane Review) [2015]
Rose, M. R., Dalakas, M., Griggs, R., Leong, K., MILLER, J. A. L., Walter, M. C., & Jones, K. (2014). Treatment for inclusion body myositis. In M. R. Rose (Ed.), Cochrane Database of Systematic Reviews (pp. 1-7). Chichester, UK: John Wiley & Sons, Ltd. http://doi.org/10.1002/14651858.CD001555.pub4

HEREDITARY INCLUSION BODY MYOPATHY PATIENT INFORMATION

Viruses in IBM Hit-and-run, hide and persist, or irrelevant?
Dalakas, M. C., & Schmidt, J. (2016). Viruses in IBM: Hit-and-run, hide and persist, or irrelevant? Neurology, 86(3), 204-5. http://doi.org/10.1212/WNL.0000000000002295

Hepatitis C virus infection in inclusion body myositis. A case-control study.
Uruha, A., Noguchi, S., Hayashi, Y. K., Tsuburaya, R. S., Yonekawa, T., Nonaka, I., & Nishino, I. (2016). Hepatitis C virus infection in inclusion body myositis. Neurology, 86(3), 211-217. http://doi.org/10.1212/WNL.0000000000002291

Diagnostic criteria for inclusion body myositis.
Hilton-Jones, D., & Brady, S. (2016). Diagnostic criteria for inclusion body myositis. Journal of Internal Medicine, n/a-n/a. http://doi.org/10.1111/joim.12480

Polymyositis, a very uncommon isolated disease: clinical and histological re-evaluation after long-term follow-up.
Vilela, V. S., Prieto-Gonzalez, S., Milisenda, J. C., Selva-O'Callaghan, A., & Grau, J. M. (2015). Polymyositis, a very uncommon isolated disease: clinical and histological re-evaluation after long-term follow-up. Rheumatology International, 35(5), 915-920. http://doi.org/10.1007/s00296-014-3198-5

Cytosolic 5'-Nucleotidase 1A As a Target of Circulating Autoantibodies in Autoimmune Diseases.
Lloyd, T. E., Christopher-Stine, L., Pinal-Fernandez, I., Tiniakou, E., Petri, M., Baer, A., . . . Mammen, A. L. (2016). Cytosolic 5?-Nucleotidase 1A As a Target of Circulating Autoantibodies in Autoimmune Diseases. Arthritis Care & Research, 68(1), 66-71. http://doi.org/10.1002/acr.22600

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