Benefits of aerobic exercise in myotonic dystrophy type 1

被引：4

作者：

Mackenzie, Samuel J. ^{[1
]}

Hamel, Johanna ^{[1
]}

Thornton, Charles A. ^{[1
]}

机构：

[1] Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA

来源：

JOURNAL OF CLINICAL INVESTIGATION | 2022年 / 132卷 / 10期

关键词：

MUSCLEBLIND PROTEINS; NUCLEAR FOCI; RNA; MICE;

D O I：

10.1172/JCI160229

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Myotonic dystrophy type 1 (DM1) is a multisystem trinucleotide repeat expansion disorder characterized by the misregulated alternative splicing of critical mRNAs. Previous work in a transgenic mouse model indicated that aerobic exercise effectively improves splicing regulation and function in skeletal muscle. In this issue of the JCI, Mikhail et al. describe the safety and benefits of applying this approach in individuals affected by DM1. A 12-week aerobic exercise program improved aerobic capacity and mobility, but not by the mechanism observed in transgenic mice. Here, we consider the possible reasons for this disparity and review other salient findings of the study in the context of evolving DM1 research.

引用

页数：4

共 22 条

[1] Skeletal muscle metabolism in myotonic dystrophy - A P-31 magnetic resonance spectroscopy study [J].

Barnes, PRJ ;

Kemp, GJ ;

Taylor, DJ ;

Radda, GK .

BRAIN, 1997, 120 :1699-1711

[2] ACTIVITY, CREATINE-KINASE, AND MYOGLOBIN IN DUCHENNE MUSCULAR-DYSTROPHY - A CLUE TO ETIOLOGY [J].

FLORENCE, JM ;

FOX, PT ;

PLANER, GJ ;

BROOKE, MH .

NEUROLOGY, 1985, 35 (05) :758-761

[3] Mitochondrial dysfunction in myotonic dystrophy type 1 [J].

Gramegna, Laura Ludovica ;

Giannoccaro, Maria Pia ;

Manners, David Neil ;

Testa, Claudia ;

Zanigni, Stefano ;

Evangelisti, Stefania ;

Bianchini, Claudio ;

Oppi, Federico ;

Poda, Roberto ;

Avoni, Patrizia ;

Lodi, Raffaele ;

Liguori, Rocco ;

Tonon, Caterina .

NEUROMUSCULAR DISORDERS, 2018, 28 (02) :144-149

[4] Antisense oligonucleotide and adjuvant exercise therapy reverse fatigue in old mice with myotonic dystrophy [J].

Hu, Ningyan ;

Kim, Eunjoo ;

Antoury, Layal ;

Li, Jia ;

Gonzalez-Perez, Paloma ;

Rutkove, Seward B. ;

Wheeler, Thurman M. .

MOLECULAR THERAPY-NUCLEIC ACIDS, 2021, 23 :393-405

[5] Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons [J].

Jiang, H ;

Mankodi, A ;

Swanson, MS ;

Moxley, RT ;

Thornton, CA .

HUMAN MOLECULAR GENETICS, 2004, 13 (24) :3079-3088

[6] Small nucleolar RNAs: An abundant group of noncoding RNAs with diverse cellular functions [J].

Kiss, T .

CELL, 2002, 109 (02) :145-148

[7] Safety, feasibility, and efficacy of strengthening exercise in Duchenne muscular dystrophy [J].

Lott, Donovan J. ;

Taivassalo, Tanja ;

Cooke, Korey D. ;

Park, Hyunjun ;

Moslemi, Zahra ;

Batra, Abhinandan ;

Forbes, Sean C. ;

Byrne, Barry J. ;

Walter, Glenn A. ;

Vandenborne, Krista .

MUSCLE & NERVE, 2021, 63 (03) :320-326

[8] Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat [J].

Mankodi, A ;

Logigian, E ;

Callahan, L ;

McClain, C ;

White, R ;

Henderson, D ;

Krym, M ;

Thornton, CA .

SCIENCE, 2000, 289 (5485) :1769-1772

[9] Nuclear RNA foci in the heart in myotonic dystrophy [J].

Mankodi, A ;

Lin, XY ;

Blaxall, BC ;

Swanson, MS ;

Thornton, CA .

CIRCULATION RESEARCH, 2005, 97 (11) :1152-1155

[10] Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2 [J].

Mankodi, A ;

Urbinati, CR ;

Yuan, QP ;

Moxley, RT ;

Sansone, V ;

Krym, M ;

Henderson, D ;

Schalling, M ;

Swanson, MS ;

Thornton, CA .

HUMAN MOLECULAR GENETICS, 2001, 10 (19) :2165-2170

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