AbstractMiyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease caused by DYSF gene mutations. Apart from skeletal muscles, DYSF is also expressed in the brain. However, the impact of MMD-causing DYSF variants on brain structure and function remains unexplored. To investigate this, we utilized magnetic resonance (MR) modalities (MR volumetry and 31P MR spectroscopy) in a family with seven children, four of whom have the illness.

摘要三好肌病/dysferlinopathy（MMD）是由DYSF基因突变引起的罕见肌肉疾病。除骨骼肌外，DYSF也在大脑中表达。但是，尚未探索引起MMD的DYSF变体对大脑结构和功能的影响。为了调查这一点，我们在一个有七个孩子的家庭中使用了磁共振（MR）模式（MR容量法和31P MR光谱法），其中四个孩子患有这种疾病。

The MMD siblings showed distinct differences from healthy controls: (1) a significant (p < 0.001) right-sided volume asymmetry (+ 232 mm3) of the inferior lateral ventricles; and (2) a significant (p < 0.001) decrease in [Mg2+], along with a modified energy metabolism profile and altered membrane turnover in the hippocampus and motor and premotor cortices.

MMD兄弟姐妹与健康对照组有明显差异：（1）下侧脑室的右侧体积不对称（+232 mm3）显着（p<0.001）；（2）[Mg2+]显着降低（p<0.001），同时改变了能量代谢特征，改变了海马以及运动和运动前皮质的膜转换。

The patients' [Mg2+], energy metabolism, and membrane turnover measures returned to those of healthy relatives after a month of 400 mg/day magnesium supplementation. This work is the first to describe anatomical and functional abnormalities characteristic of neurodegeneration in the MMD brain. Therefore, we call for further examination of brain functions in larger cohorts of MMD patients and testing of magnesium supplementation, which has proven to be an effective corrective approach in our study..

在补充400毫克/天的镁一个月后，患者的[Mg2+]，能量代谢和膜转换指标恢复到健康亲属的水平。。因此，我们呼吁进一步检查更多MMD患者的大脑功能，并测试镁补充剂，这已被证明是我们研究中有效的纠正方法。。

IntroductionMiyoshi myopathy/dysferlinopathy (MMD) is a rare, autosomal recessive, debilitating muscular ailment caused by pathogenic mutations in the DYSF gene (2p12–14), which encodes for dysferlin (also known as dystrophy-associated fer-1-like protein)1,2,3,4,5,6,7. MMD prevalence is estimated worldwide as being from 1 to 9 affected individuals in 1,000,0008,9.MMD is characterized by muscle wasting, typically in the distal parts of the legs.

简介三好肌病/dysferlinopathy（MMD）是一种罕见的常染色体隐性遗传性衰弱性肌肉疾病，由DYSF基因（2p12-14）的致病突变引起，该基因编码dysferlin（也称为营养不良相关的fer-1样蛋白）1,2,3,4,5,6,7。据估计，全球MMD患病率为10000008人中有1至9人受影响。MMD的特征是肌肉消瘦，通常在腿部远端。

With disease progression, patients develop proximal leg weakness to variable degrees, with thigh and gluteal muscles also becoming affected. The forearms of patients might also be involved, whereas the small muscles of the feet and hands are relatively spared1. The typical clinical feature of MMD (at least in the early stages of the disease) is an increase of up to 100-fold in the activity of serum creatine kinase1.

随着疾病的进展，患者会出现不同程度的近端腿部无力，大腿和臀肌也会受到影响。患者的前臂也可能受累，而脚和手的小肌肉相对稀疏1。MMD的典型临床特征（至少在疾病的早期阶段）是血清肌酸激酶1的活性增加了100倍。

MMD onset typically occurs in late adolescence or early adulthood, between the 16th and 20th years of age. The muscle weakness is slowly progressive, with loss of ambulation often in the fourth decade of life, but generally within 10–30 years after the onset of the disease1,8,10,11. Unfortunately, no therapeutic strategy is currently available for halting the progress of MMD.Skeletal magnetic resonance imaging (MRI) of MMD patients usually reveals pronounced muscle septation, fatty replacement of muscle, and muscular atrophy12.

MMD发作通常发生在青春期晚期或成年早期，16至20岁之间。肌肉无力是缓慢进行性的，通常在生命的第四个十年内会失去行走能力，但通常在疾病发作后的10-30年内1,8,10,11。不幸的是，目前尚无治疗策略可用于阻止MMD的进展。MMD患者的骨骼磁共振成像（MRI）通常显示明显的肌肉分隔，肌肉脂肪替代和肌肉萎缩症12。

The reported histopathological features are not exclusive to MMD but can also be found in other types of muscular dystrophy12. Although, amyloid deposition in skeletal muscles is semi-specifically linked to dysferlinopathies13,14. First associated with N-terminal dysferlin mutations, the amyloid deposits were demonstrated to contain dysferlin14.

报道的组织病理学特征不仅限于MMD，还可以在其他类型的肌营养不良症中发现12。尽管骨骼肌中的淀粉样蛋白沉积与铁蛋白异常有关13,14。首先与N端dysferlin突变相关，淀粉样蛋白沉积物被证明含有dysferlin14。

However, subsequent reports of identical patholog.

但是，随后有相同病理学的报道。

31P MRSThe 31P MRS quantification was performed in selected voxels in the hippocampus and premotor and motor cortices (Supplementary Figure S4) with the methods given in Supplementary Table S2. The following 31P metabolites were examined: PME, PDE, PCr, Pi, and α-, β-, γ-ATP, which were further interpreted as standard used metabolite ratios (PCr/ATP, PCr/Pi, Pi/ATP, PME/ATP, PME/PCr, PME/PDE, PDE/ATP, PDE/PCr)78,87.

31P MRS使用补充表S2中给出的方法，在海马和前运动和运动皮层的选定体素中进行31P MRS定量（补充图S4）。检测了以下31P代谢物：PME，PDE，PCr，Pi和α-，β-，γ-ATP，进一步解释为标准使用的代谢物比率（PCr/ATP，PCr/Pi，Pi/ATP，PME/ATP，PME/PCr，PME/PDE，PDE/ATP，PDE/PCr）78,87。

In addition, an indirect measure of [Mg2+] (the chemical shift of β-ATP and PCr) was obtained using the jMRUI-in-built formula88,89.Statistical analysesThe data were explored and analyzed in R ver. 4.0.5. by using the libraries robustbase, multcomp, blandr, nlme, emmeans, and randomForestSRC90,91,92,93,94,95,96.

此外，使用jMRUI内置公式88,89获得了[Mg2+]（β-ATP和PCr的化学位移）的间接测量。统计分析数据在R版本4.0.5中进行了探索和分析。通过使用库robustbase、multcomp、blandr、nlme、emmeans和randomForestSRC90、91、92、93、94、95、96。

RNotebook reports with details of data analyses have been deposited in the Mendeley data repository97.Exploratory Data Analysis (EDA) was performed using a boxplot overlaid with a swarmplot, a quantile–quantile plot with a 95% confidence band constructed by bootstrap. Any association between two continuous variables was explored using a scatterplot.

带有数据分析细节的RNotebook报告已保存在Mendeley data repository97中。探索性数据分析（EDA）是使用覆盖有swarmplot的箱线图进行的，swarmplot是由bootstrap构建的具有95%置信带的分位数-分位数图。使用散点图探索了两个连续变量之间的任何关联。

Paired measurements (before, after treatment) were visualized by the spaghettiplot.The anthropometric and biochemical data collected before and after Mg treatment, were analyzed by the Linear Mixed Regression (LMR) model M1 of the following form: response ~ treatment + group + gender + age + (1|id), where treatment is a factor with levels before Mg supplementation, after Mg supplementation; group is a factor with levels fCON (control family members), PAT (patients); gender is a factor with levels F, M and id is subject’s identifier.

配对测量（治疗前，治疗后）通过spaghettitplot可视化。Mg治疗前后收集的人体测量和生化数据通过以下形式的线性混合回归（LMR）模型M1进行分析：反应 〜治疗 + 组 + 性别 + 年龄 + （1 | id），其中治疗是补充Mg之前，补充Mg后水平的因素；组是fCON（对照家庭成员），PAT（患者）水平的因素；性别是F、M级的因素，id是受试者的标识符。

Each LMR was subjected to standard diagnostics using the quantile residuals. Estimated marginal means were obtained by the fitted LMR, and post-hoc custom contrast comparisons.

使用分位数残差对每个LMR进行标准诊断。通过拟合的LMR和事后自定义对比度比较获得估计的边际均值。

Data availability

数据可用性

Data and RNotebook script to produce the html reports which are stored at Mendeley data repository (Doi: https://doi.org/10.17632/nz45zk5g6z.1) are available upon reasonable request from the corresponding author. The newly described genetic variant of DYSF c.2864 + 1dupG has been deposited in ClinVar—NCBI (https://www.ncbi.nlm.nih.gov/clinvar/; submission: SUB14257366, SCV004611142)..

数据和RNotebook脚本生成html报告，这些报告存储在Mendeley数据库（Doi：https://doi.org/10.17632/nz45zk5g6z.1)可根据通讯作者的合理要求提供。(https://www.ncbi.nlm.nih.gov/clinvar/；提交：SUB14257366，SCV004611142）。。

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Download referencesAcknowledgementsWe extend our thanks to all study participants for their time, cooperation, and compliance, to Martin Marak (JFMED in Martin, Comenius University in Bratislava, Slovakia) for technical support, to Christian Terkanic (Central Army Hospital in Ruzomberok, Slovakia), Marek Chmelik (University of Presov, Slovakia), Tanja Werner (Protina Pharmazeutisches GmbH., Ismanning, Germany), and Jürgen Vormann (Institute for Prevention and Nutrition, Ismanning, Germany) for valuable comments and advice, to Protina Pharmazeutisches GmbH.

下载参考文献致谢我们感谢所有研究参与者的时间，合作和遵守，感谢Martin Marak（JFMED，Martin，Comenius University，Bratislava，Slovaka）的技术支持，感谢Christian Terkanic（Ruzomberok中央陆军医院，斯洛伐克），Marek Chmelik（斯洛伐克普雷索夫大学），Tanja Werner（Protina Pharmaceutisches GmbH.，Ismanning，Germany）和Jürgen Vormann（预防和营养研究所，Ismanning，Germany）的宝贵意见和建议，感谢Protina Pharmaceutisches GmbH。

(Ismanning, Germany) for providing our patients with Diasporal™ Extra 400, and to Dr. Theresa Jones for the language editing of our manuscript.FundingThis work was supported by the Slovak Research and Development Agency grant APVV-19–0222 to M.Ko. and mobility grant APVV-SK-AT-20–0010 to P.H., and Austrian Federal Ministry of Education, Science and Research (BMWFW) mobility grant WTZ Mobility SK11-2021 to I.J.Author informationAuthors and AffiliationsJessenius Faculty of Medicine in Martin, Biomedical Centre Martin, Comenius University in Bratislava, Mala Hora 4D, 03601, Martin, SlovakiaPetra Hnilicova, Marian Grendar, Alzbeta Trancikova Kralova, Jana Harsanyiova & Martin KolisekClinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 03601, Martin, SlovakiaMonika Turcanova Koprusakova, Jan Grossmann & Egon KurcaDepartment of Biomedical Imaging and Image-Guided Therapy, High-Field MR Center, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, AustriaMartin Krssak & Wolfgang BognerDepartment of Internal Medicine III, Division of Endocrinology and Metabolism, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austr.

（德国伊斯曼宁）为我们的患者提供Disaporal™Extra 400，并为特里萨·琼斯博士提供稿件的语言编辑。资助这项工作得到了斯洛伐克研究与发展机构向M.Ko提供的APVV-19-0222赠款的支持。和向P.H.授予APVV-SK-AT-20-0010的流动性补助金，以及奥地利联邦教育、科学和研究部（BMWFW）向I.J.授予WTZ流动性SK11-2021的流动性补助金。作者信息作者和附属机构马丁医学院，生物医学中心马丁，布拉迪斯拉发夸美纽斯大学，马拉霍拉4D，03601，马丁，斯洛伐克人Hnilicova，Marian Grendar，Alzbeta Trancikova Kralova，Jana Harsanyiova&Martin KolisekClinic神经病学，马丁杰森尤斯医学院，夸美纽斯大学布拉迪斯拉发，Kollarova 203601，Martin，SlovakiaMonika Turcanova Koprusakova，Jan Grossmann＆Egon KurcaDepartment of Biomedical Imaging and Image Guided Therapy，High Field MR Center，维也纳医科大学，Waehringer Guertel 18-201090，维也纳，Australiamartin Krssak＆Wolfgang Bogner维也纳医科大学内分泌与代谢系III，Waehringer Guertel 18-201090，维也纳，澳大利亚。

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PubMed Google ScholarContributionsStudy design and supervision: M.Ko.; Contribution to study design: P.H.; Patient recruitment and examination: M.T.K., M.Ko.; MR data acquisition: P.H.; MR data processing and curation: P.H., M.Kr., I.J., W.B.; MR Supervision: W.B.; Genetics: N.M., M.H.; Cognitive testing: J.G.; Confocal microscopy: A.T.K., J.H.; Histology: P.S., I.M.; Clinical advice and audit: E.K., K.Z., N.Z.; Statistics and machine learning: M.G.; Manuscript writing: M.Ko., P.H., M.G.; Contribution to manuscript writing: M.H., N.Z.Corresponding authorCorrespondence to.

PubMed谷歌学术贡献研究设计与监督：M.Ko。；对研究设计的贡献：P.H。；患者招募和检查：M.T.K.，M.Ko。；MR数据采集：P.H。；。；MR监督：W.B。；遗传学：N.M.，M.H。；认知测试：J.G。；共聚焦显微镜：A.T.K.，J.H。；组织学：P.S.，I.M。；临床建议和审计：E.K.，K.Z.，N.Z。；统计学和机器学习：M.G。；手稿撰写：M.Ko。，P、 H.，M.G。；对稿件撰写的贡献：M.H.，N.Z。通讯作者通讯。

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Reprints and permissionsAbout this articleCite this articleHnilicova, P., Grendar, M., Turcanova Koprusakova, M. et al. Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies.

转载和许可本文引用本文Hilicova，P.，Grendar，M.，Turcanova-Koprusakova，M。等人。三好肌病/铁蛋白异常患者的大脑表现出结构和代谢异常。

Sci Rep 14, 19267 (2024). https://doi.org/10.1038/s41598-024-69966-4Download citationReceived: 06 February 2024Accepted: 12 August 2024Published: 20 August 2024DOI: https://doi.org/10.1038/s41598-024-69966-4Share this articleAnyone you share the following link with will be able to read this content:Get shareable linkSorry, a shareable link is not currently available for this article.Copy to clipboard.

科学报告1419267（2024）。https://doi.org/10.1038/s41598-024-69966-4Download引文接收日期：2024年2月6日接受日期：2024年8月12日发布日期：2024年8月20日OI：https://doi.org/10.1038/s41598-024-69966-4Share本文与您共享以下链接的任何人都可以阅读此内容：获取可共享链接对不起，本文目前没有可共享的链接。复制到剪贴板。

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KeywordsMiyoshi myopathy/dysferlinopathyDysferlinMagnetic resonanceInferior lateral ventriclesBrain volume asymmetryMagnesium

关键词Miyoshi肌病/dysferlinopathyDysferlinMagnetic resonanceInferior lateral ventriculsbrain volume不对称镁

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BiomarkersMedical researchNeurodegenerationNeuroscienceSigns and symptomsTranslational research

生物标志物医学研究神经退行性疾病神经科学体征和症状替代研究

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