Clinical features of anti-mitochondrial M2 antibody-positive myositis: case series of 17 patients

Nagai, Ayako; Nagai, Toshiyuki; Yaguchi, Hiroaki; Fujii, Shintaro; Uwatoko, Hisashi; Shirai, Shinichi; Horiuchi, Kazuhiro; Iwata, Ikuko; Matsushima, Masaaki; Ura, Shigehisa; Anzai, Toshihisa; Yabe, Ichiro

doi:10.1016/j.jns.2022.120391

Cited by 8 publications

(10 citation statements)

References 21 publications

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“…Neck weakness was found in 56.8% of our patients, similar to that reported in previous studies (57.1-85.7%). 7,9,29,37 Dysphagia was observed in 18.9% of our patients, and the frequency of dysphagia reported in previous studies ranged largely from 11.8% to 71.4%. [7][8][9]29,30 Restrictive ventilatory impairment was found in 6 out of 7 (85.7%) patients in our study, which was slightly higher than that in previous studies (31.6-70.6%).…”

Section: Discussionsupporting

confidence: 45%

“…[7][8][9]29,30 Restrictive ventilatory impairment was found in 6 out of 7 (85.7%) patients in our study, which was slightly higher than that in previous studies (31.6-70.6%). 29,37 Few studies reported diaphragm thinning and reduced mobility in IIMs patients with AMAs, and our findings suggested that reduced diaphragm mobility were found in 4 out of 8 (50%) patients. Trunk weakness was reported in 82.4% of patients in a previous study.…”

Section: Discussionmentioning

confidence: 54%

“…Trunk weakness was reported in 82.4% of patients in a previous study. 37 In addition, lordotic posture and dropped head were also reported in IIMs ). (A) There were no significant differences in the ccf-mtDNA copy numbers between remission group and non-remission group.…”

Section: Discussionmentioning

confidence: 96%

“…**p < 0.01. patients with AMAs. 29,37 Histopathological findings suggested that inflammation appears to be more intense in the trunk muscles rather than in the limbs of IIMs patients with AMAs. 31 AMAs are regarded as the serological hall markers of PBC, and the frequency of PBC in IIMs patients with AMAs ranged from 14.3% to 75%.…”

Section: Discussionmentioning

confidence: 99%

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Clinicopathological and circulating cell‐free DNA profile in myositis associated with anti‐mitochondrial antibody

Wang,

Zhao,

et al. 2023

Ann Clin Transl Neurol

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ObjectiveAnti‐mitochondrial antibodies (AMAs) are associated with idiopathic inflammatory myopathies (IIMs). We aimed to summarize the clinicopathological characteristics, assess circulating cell‐free mitochondrial DNA (ccf‐mtDNA), and circulating cell‐free nuclear DNA (ccf‐nDNA) in AMA‐associated IIMs.MethodsMedical records of 37 IIMs patients with AMAs were reviewed. Circulating cell‐free mtDNA and ccf‐nDNA levels in sera from IIMs patients with AMAs (n = 21), disease controls (n = 66) and healthy controls (HCs) (n = 23) were measured and compared. Twenty‐eight immune‐mediated necrotizing myopathy (IMNM) patients, 23 dermatomyositis (DM) patients, and 15 anti‐synthetase syndrome (ASS) patients were enrolled as disease controls. Correlations between variables were analyzed.ResultsLimb weakness was observed in 75.7% and neck weakness in 56.8% of patients. Cardiac involvement occurred in 51.4% of patients. Muscle pathology revealed 81.1% of IMNM, 5.4% polymyositis, and 13.5% nonspecific myositis. Microinfarction was observed in 8.1% of patients. Serum ccf‐mtDNA levels in AMA‐associated IIMs were significantly higher than those in HCs (p < 0.001), but no significant differences between AMA‐associated IIMs and IMNM, DM, or ASS. Serum ccf‐nDNA levels in AMA‐associated IIMs were significantly higher than those in HCs (p = 0.02), and significantly lower than those in DM (p = 0.02). Serum ccf‐nDNA levels correlated negatively with MMT8 total scores (rs = −0.458, p = 0.037) and positively with mRS scores (rs = 0.486, p = 0.025). Serum ccf‐nDNA levels were significantly higher in the non‐remission group (p < 0.01).InterpretationAMA‐associated IIMs exhibit distinct clinicopathological features. Serum ccf‐nDNA may serve as a potential marker for disease severity and prognosis in AMA‐associated IIMs.

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Section: Discussionsupporting

confidence: 45%

Section: Discussionmentioning

confidence: 54%

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

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Clinicopathological and circulating cell‐free DNA profile in myositis associated with anti‐mitochondrial antibody

Wang,

Zhao,

et al. 2023

Ann Clin Transl Neurol

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“…Early PBC diagnosis and therapy are very important [5]. In the serum of PBC patients, anti-mitochondrial antibodies (AMAs) are characterized by high titers [6,7], which can be detected in more than 90% of PBC patients [8,9]. Therefore, the detection of AMAs is crucial for the diagnosis of PBC [10,11].…”

Section: Introductionmentioning

confidence: 99%

Research experimental design for the construction and identification of the pGEX-BCKD-E4A recombinant point-mutant plasmid

2023

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Primary biliary cirrhosis (PBC) is an organ-specific autoimmune disease that eventually develops into cirrhosis and even liver cancer. In recent years, the incidence rate has been increasing, and the early diagnosis and treatment of PBC are crucial. In the early diagnosis method of PBC, anti-mitochondrial antibodies (AMAs) are an important diagnostic basis, especially the M2 subtype (AMA-M2) with almost 100% specificity. We selected the BCOADC-E2 protein, a mitochondrial autoantigen that reacts specifically with AMA-M2 antibodies, and carried out DNA recombination and protein mutation experiments by cloning in vitro the homologous target gene sequence BCKD that expresses the antigenic epitope of BCOADC-E2 protein, to provide experience for later exploring the effect of mutations of amino acids around the lysine in the active center of BCOADC-E2 protein on its specific binding to AMA-M2, and to lay the foundation for determining the key amino acids of BCOADC-E2 for the diagnosis and treatment of PBC. In addition, we apply this scientific research content to graduate course teaching. Experimental technology of microbial molecular ecology is a course with the cross-integration of multidisciplinary knowledge and experimental skills offered at our college since 2018. This article derives from the part of this course on the construction of recombinant plasmids. The students first constructed the recombinant plasmid pGEX-BCKD using the vector plasmid pGEX-4T1 and the target gene fragment BCKD provided by the laboratory and used this as a template to construct the pGEX-BCKD-E4A point mutation plasmid by the overlap extension PCR (SOE PCR) technique to achieve the effect of mutating the fifth amino acid glutamate in front of lysine, the active centre of the BCOADC-E2 lipid acyl binding domain, to alanine for subsequent studies. Through the research experiment, combining theoretical knowledge and experimental operation, we aim to deepen the student’s understanding of DNA recombination technology, let them feel the practical application prospect of experimental technology, stimulate students’ interest in professional knowledge learning, and cultivate students’ scientific thinking and innovation consciousness. We examined the quality of the teaching through the process and summative evaluation of the students. In this study, the students successfully completed the construction of pGEX-BCKD-E4A point mutant plasmid, and the average test score increased from 40.4% before teaching to 91.1%. The teaching effect was remarkable. This kind of research experimental teaching mode has good application prospects, and other education and teachers can refer to and reference it.

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Cluster analysis of clinical phenotypes in idiopathic inflammatory myopathy patients complicated with cardiac involvement

Dong,

Meng,

et al. 2024

Clin Rheumatol

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Clinical features of anti-mitochondrial M2 antibody-positive myositis: case series of 17 patients

Cited by 8 publications

References 21 publications

Clinicopathological and circulating cell‐free DNA profile in myositis associated with anti‐mitochondrial antibody

Clinicopathological and circulating cell‐free DNA profile in myositis associated with anti‐mitochondrial antibody

Research experimental design for the construction and identification of the pGEX-BCKD-E4A recombinant point-mutant plasmid

Cluster analysis of clinical phenotypes in idiopathic inflammatory myopathy patients complicated with cardiac involvement

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