Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb‐girdle muscular dystrophy type 2A by muscle magnetic resonance imaging

Feng, Xuelin; Luo, Sushan; Li, Jing; Yue, Dongyue; Xi, Jianying; Zhu, Wenhua; Gao, Xiaolong; Guan, Xun; Lu, Jiahong; Liang, Zonghui; Zhao, Chongbo

doi:10.1002/mus.26169

Cited by 25 publications

(23 citation statements)

References 19 publications

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“…Formation of lobulated myofibres, lacking proper cytoarchitecture, is also considered a major pathological hallmark. Dystrophic areas are characterised by inflammatory infiltrates, along with fat/fibrotic tissue replacement indicating necrosis and poor regeneration [ 77 ]. Strikingly, a significant increase in satellite cells occurs in muscle biopsies, suggesting that inefficient regeneration may result from altered satellite cell dynamics or function.…”

Section: Gene Mutations That Cause Primary Satellite Cell-opathiesmentioning

confidence: 99%

Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies

Ganassi

Muntoni

Zammit

2022

Experimental Cell Research

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Muscular dystrophies and congenital myopathies arise from specific genetic mutations causing skeletal muscle weakness that reduces quality of life. Muscle health relies on resident muscle stem cells called satellite cells, which enable life-course muscle growth, maintenance, repair and regeneration. Such tuned plasticity gradually diminishes in muscle diseases, suggesting compromised satellite cell function. A central issue however, is whether the pathogenic mutation perturbs satellite cell function directly and/or indirectly via an increasingly hostile microenvironment as disease progresses. Here, we explore the effects on satellite cell function of pathogenic mutations in genes (myopathogenes) that associate with muscle disorders, to evaluate clinical and muscle pathological hallmarks that define dysfunctional satellite cells. We deploy transcriptomic analysis and comparison between muscular dystrophies and myopathies to determine the contribution of satellite cell dysfunction using literature, expression dynamics of myopathogenes and their response to the satellite cell regulator PAX7. Our multimodal approach extends current pathological classifications to define Satellite Cell-opathies: muscle disorders in which satellite cell dysfunction contributes to pathology. Primary Satellite Cell-opathies are conditions where mutations in a myopathogene directly affect satellite cell function, such as in Progressive Congenital Myopathy with Scoliosis (MYOSCO) and Carey-Fineman-Ziter Syndrome (CFZS). Primary satellite cell-opathies are generally characterised as being congenital with general hypotonia, and specific involvement of respiratory, trunk and facial muscles, although serum CK levels are usually within the normal range. Secondary Satellite Cell-opathies have mutations in myopathogenes that affect both satellite cells and muscle fibres. Such classification aids diagnosis and predicting probable disease course, as well as informing on treatment and therapeutic development.

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Section: Gene Mutations That Cause Primary Satellite Cell-opathiesmentioning

confidence: 99%

Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies

Ganassi

Muntoni

Zammit

2022

Experimental Cell Research

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“…Magnetic resonance imaging (MRI) allows for the noninvasive investigation of body composition, quantifies different adipose tissue compartments, and is considered the gold standard. Additionally, MRI enables quantification of adipose tissue infiltration in the skeletal muscle and is the only method to assess intramuscular adipose tissue distribution without exposure to ionizing radiation [ 15 , 22 , 23 ].…”

Section: Introductionmentioning

confidence: 99%

Investigation of the Relationship between the Mid_Thigh Adipose Tissue Distribution Measured by MRI and Serum Osteocalcin—A Sex-Based Approach

Hassler

Almer²,

Reishofer

et al. 2021

Nutrients

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Osteocalcin, in its non-carboxylated form, has a positive effect on glucose metabolism. Additionally, osteocalcin levels are related to body composition, especially muscle mass. The relation to the distribution of different adipose tissue types, such as subcutaneous, intermuscular, and visceral adipose tissue, is unclear. This study aimed to investigate associations between serum osteocalcin and the distribution of subcutaneous and intermuscular adipose tissue of the mid-thigh. Furthermore, the influence of different training methods on osteocalcin levels was investigated. We performed adipose tissue quantification of subcutaneous adipose tissue (SAT) and intramuscular adipose tissue (IMAT) using MRI measurements of the mid-thigh in 128 volunteers (63 male/65 female). Laboratory analysis included blood lipid panel, serum insulin, adiponectin, and osteocalcin measurements. The main observation was a significant correlation of total serum osteocalcin (TOC) and the distribution of adipose tissue of the mid-thigh (SAT/(SAT + IMAT)) (cc = −0.29/p-value = 0.002), as well as the cross-sectional muscle area (MA), increasing with the weekly resistance training duration in males. Additionally, TOC (p-value = 0.01) and MA (p-value = 0.03) were negatively related to serum insulin. The significant relationship between TOC and SAT/(SAT + IMAT) is a new finding and confirms the negative influence of IMAT on glucose metabolism in a sex-specific approach. We could substantiate this by the negative relation of TOC with serum insulin.

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“…In the shoulder girdle and upper limbs, we found a more severe fatty infiltration of the serratus anterior, subscapularis, latissimus dorsi, and biceps brachii, confirming previous observations. 2,3,20 This information could be useful in differentiating from Pompe disease, in which latissimus dorsi and biceps brachii tend to be affected only in advanced stages. 21 The pseudocollagen sign was present in most of our patients, which could be due to the long duration of the disease in our cohort.…”

Section: Discussionmentioning

confidence: 99%

Whole‐Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores

et al. 2022

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Introduction/Aim: The most common limb girdle muscular dystrophy (LGMD) worldwide is LGMD type R1 (LGMDR1). The aim of this study was to correlate the MRI findings with functional scores and to describe the whole-body MRI (WBMRI) pattern in a LGMDR1 Brazilian cohort. Methods:LGMDR1 patients under follow-up in three centers were referred for the study. Clinical data were collected and a functional evaluation was performed, consisting of Gardner-Medwin and Walton (GMW) and Brooke scales. All patients underwent a WBMRI study (1.5T) with axial T1 and STIR images. Fifty-one muscles were semiquantitatively assessed regarding fatty infiltration and muscle edema. Results:The study group consisted of 18 patients. The highest fatty infiltration scores involved the serratus anterior, biceps femoris long head, adductor magnus, and lumbar erector spinae. There was a latero-medial and caudo-cranial descending gradient of involvement of the paravertebral muscles, with erector spinae being significantly more affected than the transversospinalis muscles (p < 0.05). A striped appearance that has been dubbed the "pseudocollagen sign" was present in 72% of the patients. There was a positive correlation between the MRI score and GMW (Rho:0.83) and Brooke (Rho:0.53) scores.Discussion: WBMRI in LGMDR1 allows a global patient evaluation including involvement of the paraspinal muscles, usually an underestimated feature in the clinical and imaging study of myopathies. Knowledge of the WBMRI pattern ofLGMDR1 involvement can be useful in the diagnostic approach and in future studies to identify the best target muscles to serve as outcome measures in clinical trials.

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Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb‐girdle muscular dystrophy type 2A by muscle magnetic resonance imaging

Abstract: The selective involvement pattern is potentially useful for LGMD2A diagnosis. Upper leg muscle MRI is a sensitive evaluation method for monitoring disease progression. Muscle Nerve 58: 536-541, 2018.

Cited by 25 publications

References 19 publications

Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies

Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies

Investigation of the Relationship between the Mid_Thigh Adipose Tissue Distribution Measured by MRI and Serum Osteocalcin—A Sex-Based Approach

Whole‐Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores

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