Multi-Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study

IF 9.1 1区医学 Q1 GERIATRICS & GERONTOLOGY

Journal of Cachexia Sarcopenia and Muscle Pub Date : 2026-03-19 DOI:10.1002/jcsm.70245

Claudius S. Mathy, Lena V. Gast, Christian Holtzhausen, Teresa Gerhalter, Christoph Stuprich, Matthias Türk, Rafael Heiss, Benjamin Marty, Frederik B. Laun, Julia V. Wanschitz, Simon Hametner, Arnd Dörfler, Michael Uder, Tobias Bäuerle, Armin M. Nagel, Rolf Schröder

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引用次数: 0

Abstract

Background

Myofibrillar myopathies (MFM) form a large group of clinically and genetically heterogeneous protein aggregate diseases. We investigated whether a novel quantitative MRI protocol can reveal new aspects of structural and biochemical muscle pathology in three classic MFM subtypes.

Methods

MRI of the lower legs was performed in nine MFM patients with filamin-C (FLNC; n = 5), desmin (DES, n = 2) and LIM domain binding 3 (LDB3; n = 2) gene mutations, one patient with non-MFM, filamin-C related distal myopathy (4 males, 6 females, 51.0 ± 7.7 years) and 10 age-matched healthy control subjects (5 males, 5 females, 50.0 ± 11.0 years). ¹H MRI at 3 T addressed fatty replacement and edema-like changes as well as quantitative measurements of proton density fat fraction (PDFF) and water T₂ relaxation times. ³⁹K/²³Na MRI at 7 T was employed to determine apparent tissue potassium and tissue sodium concentrations (aTPC/aTSC).

Results

T₁-weighted and T₂-weighted STIR imaging showed the highest degree of fat replacement in the soleus and gastrocnemius medialis muscle regions and the highest degree of edema-like changes in the extensor regions in all 10 myopathy patients. The lowest degree of fat replacement and edema-like changes was present in the gastrocnemius lateralis muscles. Marked fatty replacement of peroneus muscles was also present in DES-related MFM and FLNC-related distal myopathy. Muscular PDFF values were significantly increased in all MFM patients (p = 0.003 - < 0.001) with 60 and 35 of 63 muscles analysed showing increased mean PDFF (> 10% and > 50%). When excluding the muscles with PDFF > 50%, the median water T₂ was significantly increased in all muscle regions of MFM patients with the exception of the tibialis anterior and posterior muscles. Fat-corrected aTSC values in MFM patients were significantly increased compared to healthy controls (55.6 ± 16.3 mM vs. 23.2 ± 5.5 mM, p < 0.001) in all muscles but peroneus muscles, whereas fat-corrected aTPC values were reduced in all muscles except for gastrocnemius lateralis, tibialis posterior and peroneus muscles (75.4 ± 13.3 mM vs. 108.9 ± 9.9 mM, p < 0.001).

Conclusions

Quantitative PDFF measurements and water T₂ mapping serve as valuable tools to objectively quantify fat and edema-like changes in MFM. Furthermore, changes in potassium/sodium ion balance in the lower leg muscles of MFM patients could serve as new markers to quantify the extent of biochemical changes in individual muscle regions. Further longitudinal evaluation is required to validate whether they are sensitive to changes prior to a high degree of fat replacement.

Abstract Image

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3 T和7 T多参数MRI方法评估肌原性肌病骨骼肌病理：一项初步研究

背景：肌原纤维性肌病（MFM）是一大类临床和遗传异质性蛋白聚集性疾病。我们研究了一种新的定量MRI方案是否可以揭示三种经典MFM亚型的结构和生化肌肉病理的新方面。方法对9例丝素- C （FLNC, n = 5）、desmin （DES, n = 2）和LIM结构域结合3 （LDB3, n = 2）基因突变的MFM患者，1例非MFM，丝素- C相关远端肌病患者（男4例，女6例，51.0±7.7岁）和10例年龄匹配的健康对照（男5例，女5例，50.0±11.0岁）进行下肢MRI检查。3t时1h MRI处理脂肪替代和水肿样变化，以及质子密度脂肪分数（PDFF）和水t2松弛时间的定量测量。7 T时采用39 K/ 23 Na MRI测定组织钾和组织钠表观浓度（aTPC/aTSC）。结果在所有10例肌病患者中，t1加权和t2加权STIR成像显示比目鱼肌和腓肠肌内侧肌区域的脂肪替代程度最高，伸肌区域的水肿样变化程度最高。最低程度的脂肪替代和水肿样改变出现在腓肠肌外侧。在DES相关的MFM和FLNC相关的远端肌病中也存在腓骨肌明显的脂肪替代。所有MFM患者的肌肉PDFF值均显著增加（p = 0.003‐< 0.001），分析的63块肌肉中有60块和35块显示平均PDFF增加（>； 10%和>； 50%）。当排除PDFF >； 50%的肌肉时，除胫骨前后肌外，MFM患者所有肌肉区域的正中水t2均显著升高。与健康对照组相比，MFM患者除腓骨肌外的所有肌肉的脂肪校正aTSC值均显著增加（55.6±16.3 mM vs. 23.2±5.5 mM, p < 0.001），而除腓骨外侧肌、胫后肌和腓骨肌外的所有肌肉的脂肪校正aTPC值均降低（75.4±13.3 mM vs. 108.9±9.9 mM, p < 0.001）。结论定量PDFF测量和水t2制图是客观量化MFM脂肪和水肿样变化的有价值的工具。此外，MFM患者下肢肌肉中钾/钠离子平衡的变化可以作为量化单个肌肉区域生化变化程度的新标志物。需要进一步的纵向评估来验证他们是否对高度脂肪替代之前的变化敏感。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Cachexia Sarcopenia and Muscle MEDICINE, GENERAL & INTERNAL-

CiteScore

13.30

自引率

12.40%

发文量

234

审稿时长

16 weeks

期刊介绍： The Journal of Cachexia, Sarcopenia and Muscle is a peer-reviewed international journal dedicated to publishing materials related to cachexia and sarcopenia, as well as body composition and its physiological and pathophysiological changes across the lifespan and in response to various illnesses from all fields of life sciences. The journal aims to provide a reliable resource for professionals interested in related research or involved in the clinical care of affected patients, such as those suffering from AIDS, cancer, chronic heart failure, chronic lung disease, liver cirrhosis, chronic kidney failure, rheumatoid arthritis, or sepsis.