Overview

The Muscle Disease Section focuses its research on myositis, a rare family of autoimmune diseases in which the body's immune system attacks healthy muscle tissue, causing inflammation, weakness, fatigue, and pain in skeletal muscles. Problems that affect the skin, lungs, and joints often accompany myositis. 

Research Focus:

  • Dermatomyositis, which can include a skin rash.
  • The anti-synthetase syndrome, which can include a rash, lung disease, and arthritis.
  • Inclusion body myositis, which typically affects the muscles of older adults. 
  • Immune-mediated necrotizing myopathy, which can cause especially severe weakness in children and adults alike.

Lab Goals: 

  • Define the different subtypes of autoimmune muscle disease based on muscle histology, autoantibodies, and other biomarkers.
  • Describe the role of myositis autoantibodies in the pathogenesis of myositis. 
  • Develop animal models of myositis that are relevant to human diseases.
  • Understand how environmental exposures, including medications such as statins and cancer immunotherapies, can trigger autoimmune muscle disease. 
  • Use novel therapeutic strategies to treat myositis patients at the NIH Clinical Center.

In 2007, while on the faculty at Johns Hopkins, Dr. Mammen co-founded the Johns Hopkins Myositis Center. This group discovered a form of immune-mediated necrotizing myopathy triggered by statins, a medication used to lower cholesterol concentrations (Arthritis Rheum 63:713–721, 2011). This disease occurs in approximately 1 in 50,000 Black and white Americans exposed to statins. However, working with colleagues in New Mexico, they found that around 1 in 300 members of the Navajo Nation may develop this form of myositis if exposed to statins (Arthritis Rheum 2022; DOI:10.1002/art.42126; online ahead of print). Dr. Mammen's research continues to investigate why some people can safely use statins while others have an increased risk of developing myositis and should avoid this cholesterol-lowering medication.

Contact Us

Nikki Eiland

Sr. Administrative Assistant
9000 Rockville Pike
Building 50, Room 1518
Bethesda MD 20892

Core Research Facilities

Labs at the NIAMS are supported by the following state-of-the-art facilities and services:

Staff

Image
Photograph showing faces of the six lab members standing in a line.

Former Lab Members

Postdoctoral Fellows

  • Jiram Torres Ruiz, M.D., 2021-2022
  • Angela Quintana Vega, Ph.D., 2020-2021
  • Hilal Cevik, M.D., 2019 (2 months)
  • Albert Gil Vila, M.D., 2019 (3 months)
  • Benjamin Plotz, M.D., 2018 (1 month)
  • Sara Sabbagh, D.O., 2017-2019

Pre-doctoral Fellows

  • Bianca Campbell, 2022 (two months)
  • Rose Graf, 2018-2019
  • Rebecca De Lorenzo, 2017
  • Richard Yeker, 2016-2018
  • David Amici, 2016-2017
  • Cassie Parks, 2015-2017
  • Wilson Huang , 2014-2016
 

Scientific Publications

Selected Recent Publications

Coexisting autoantibodies against transcription factor Sp4 are associated with decreased cancer risk in patients with dermatomyositis with anti-TIF1γ autoantibodies.

Hosono Y, Sie B, Pinal-Fernandez I, Pak K, Mecoli CA, Casal-Dominguez M, Warner BM, Kaplan MJ, Albayda J, Danoff S, Lloyd TE, Paik JJ, Tiniakou E, Aggarwal R, Oddis CV, Moghadam-Kia S, Carmona-Rivera C, Milisenda JC, Grau-Junyent JM, Selva-O'Callaghan A, Christopher-Stine L, Larman HB, Mammen AL
Ann Rheum Dis.
2023 Feb;
82(2).
doi: 10.1136/ard-2022-222441
PMID: 36008132

Anti-FHL1 autoantibodies in juvenile myositis are associated with anti-Ro52 autoantibodies but not with severe disease features.

Sherman MA, Graf R, Sabbagh SE, Galindo-Feria AS, Pinal-Fernandez I, Pak K, Kishi T, Flegel WA, Targoff IN, Miller FW, Lundberg IE, Rider LG, Mammen AL, Childhood Myositis Heterogeneity Collaborative Study Group
Rheumatology (Oxford).
2022 Aug 12;
pii: keac428. doi: 10.1093/rheumatology/keac428
PMID: 35961028

Increased risk of statin-associated autoimmune myopathy among American Indians.

Wei J, Ketner E, Mammen AL
Arthritis Rheumatol.
2022 Sep;
74(9).
doi: 10.1002/art.42126
PMID: 35333459

Performance of the 2017 European Alliance of Associations for Rheumatology/American College of Rheumatology Classification Criteria for Idiopathic Inflammatory Myopathies in Patients With Myositis-Specific Autoantibodies.

Casal-Dominguez M, Pinal-Fernandez I, Pak K, Huang W, Selva-O'Callaghan A, Albayda J, Casciola-Rosen L, Paik JJ, Tiniakou E, Mecoli CA, Lloyd TE, Danoff SK, Christopher-Stine L, Mammen AL
Arthritis Rheumatol.
2022 Mar;
74(3).
doi: 10.1002/art.41964
PMID: 34480833

The phenotype of myositis patients with anti-Ku autoantibodies.

Casal-Dominguez M, Pinal-Fernandez I, Derfoul A, Graf R, Michelle H, Albayda J, Tiniakou E, Adler B, Danoff SK, Lloyd TE, Christoper-Stine L, Paik JJ, Mammen AL
Semin Arthritis Rheum.
2021 Aug;
51(4).
doi: 10.1016/j.semarthrit.2021.04.012
PMID: 34144382

Anti-mitochondrial autoantibodies are associated with cardiomyopathy, dysphagia, and features of more severe disease in adult-onset myositis.

Sabbagh SE, Pinal-Fernandez I, Casal-Dominguez M, Albayda J, Paik JJ, Miller FW, Rider LG, Mammen AL, Christopher-Stine L, Johns Hopkins Myositis Center Group
Clin Rheumatol.
2021 Oct;
40(10).
doi: 10.1007/s10067-021-05730-7
PMID: 33851273

The indirect immunofluorescence assay autoantibody profiles of myositis patients without known myositis-specific autoantibodies.

Casal-Dominguez M, Pinal-Fernandez I, Pak K, Marin-Sanchez A, Sanz-Martinez MT, Baucells A, Hosono Y, Christopher-Stine L, Mammen AL, Johns Hopkins Myositis Center Group
Clin Exp Rheumatol.
2021 May-Jun;
39(3).
doi: 10.55563/clinexprheumatol/7kyr5e
PMID: 32896249

More prominent muscle involvement in patients with dermatomyositis with anti-Mi2 autoantibodies.

Pinal-Fernandez I, Mecoli CA, Casal-Dominguez M, Pak K, Hosono Y, Huapaya J, Huang W, Albayda J, Tiniakou E, Paik JJ, Johnson C, Danoff SK, Corse AM, Christopher-Stine L, Mammen AL
Neurology.
2019 Nov 5;
93(19).
doi: 10.1212/WNL.0000000000008443
PMID: 31594859

Myositis Autoantigen Expression Correlates With Muscle Regeneration but Not Autoantibody Specificity.

Pinal-Fernandez I, Amici DR, Parks CA, Derfoul A, Casal-Dominguez M, Pak K, Yeker R, Plotz P, Milisenda JC, Grau-Junyent JM, Selva-O'Callaghan A, Paik JJ, Albayda J, Corse AM, Lloyd TE, Christopher-Stine L, Mammen AL
Arthritis Rheumatol.
2019 Aug;
71(8).
doi: 10.1002/art.40883
PMID: 30861336

Key Publications

Machine learning algorithms reveal unique gene expression profiles in muscle biopsies from patients with different types of myositis.

Pinal-Fernandez I, Casal-Dominguez M, Derfoul A, Pak K, Miller FW, Milisenda JC, Grau-Junyent JM, Selva-O'Callaghan A, Carrion-Ribas C, Paik JJ, Albayda J, Christopher-Stine L, Lloyd TE, Corse AM, Mammen AL
Ann Rheum Dis.
2020 Sep;
79(9).
doi: 10.1136/annrheumdis-2019-216599
PMID: 32546599

Identification of distinctive interferon gene signatures in different types of myositis.

Pinal-Fernandez I, Casal-Dominguez M, Derfoul A, Pak K, Plotz P, Miller FW, Milisenda JC, Grau-Junyent JM, Selva-O'Callaghan A, Paik J, Albayda J, Christopher-Stine L, Lloyd TE, Corse AM, Mammen AL
Neurology.
2019 Sep 17;
93(12).
doi: 10.1212/WNL.0000000000008128
PMID: 31434690

Pre-existing antiacetylcholine receptor autoantibodies and B cell lymphopaenia are associated with the development of myositis in patients with thymoma treated with avelumab, an immune checkpoint inhibitor targeting programmed death-ligand 1.

Mammen AL, Rajan A, Pak K, Lehky T, Casciola-Rosen L, Donahue RN, Lepone LM, Zekeridou A, Pittock SJ, Hassan R, Schlom J, Gulley JL
Ann Rheum Dis.
2019 Jan;
78(1).
doi: 10.1136/annrheumdis-2018-213777
PMID: 30185415

Statin-Associated Autoimmune Myopathy.

Mammen AL
N Engl J Med.
2016 Feb 18;
374(7).
doi: 10.1056/NEJMra1515161
PMID: 26886523

Intravenous Immune Globulin for Statin-Triggered Autoimmune Myopathy.

Mammen AL, Tiniakou E
N Engl J Med.
2015 Oct 22;
373(17).
doi: 10.1056/NEJMc1506163
PMID: 26488714

Autoantibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase in patients with statin-associated autoimmune myopathy.

Mammen AL, Chung T, Christopher-Stine L, Rosen P, Rosen A, Doering KR, Casciola-Rosen LA
Arthritis Rheum.
2011 Mar;
63(3).
doi: 10.1002/art.30156
PMID: 21360500

News & Highlights

NIH News in Health | June 6, 2022

Understanding Autoimmune Diseases

Sometimes, your immune system makes mistakes. If it sees your body’s healthy cells as a threat, it may attack them. This can cause an autoimmune disorder.