What do mouse models of muscular dystrophy tell us about the <scp>DAPC</scp> and its components?

Whitmore, C.; Morgan, Jennifer E.

doi:10.1111/iep.12095

Cited by 19 publications

(17 citation statements)

References 137 publications

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“…We found that the two and four limb hanging tests were sensitive and reliable outcome measures, as we detected marked differences in the results between wild type and both LGMD strains with high statistical significance. Namely, we observed a significant muscle function impairment already at four weeks of age in both LGMD strains, confirming previous findings that sarcoglycan deficient mice have an early disease onset [ 25 ]. Moreover, these differences increased over time.…”

Section: Discussionsupporting

confidence: 91%

“…All muscle dystrophy hallmarks examined were more pronounced in diaphragm muscles. Interestingly, this is in line with a number of other muscular dystrophy mouse models [ 25 ]. The diaphragm is thought to be the most frequently used muscle, which would explain the more severe contraction induced damage.…”

Section: Discussionsupporting

confidence: 88%

“…Our finding concurs with the previous electron microscopy study that found fat droplets in the diaphragm from SGCA-null mice [ 31 ]. We think that it is a specific hallmark for sarcoglycan mutants, since to our knowledge it has never been described in mdx mice and other muscular dystrophy mouse models [ 25 ]. Histological evaluation of fat droplets differed from the gene expression analyses of fat-related genes, where fat droplets were mainly detected in gastrocnemius and diaphragm muscles, while Ppar-gamma was upregulated in quadriceps and diaphragm muscle and Adipoq was increased in tibialis anterior muscle.…”

Section: Discussionmentioning

confidence: 99%

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Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F

et al. 2017

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Limb-girdle muscular dystrophy types 2D and 2F (LGMD 2D and 2F) are autosomal recessive disorders caused by mutations in the alpha- and delta sarcoglycan genes, respectively, leading to severe muscle weakness and degeneration. The cause of the disease has been well characterized and a number of animal models are available for pre-clinical studies to test potential therapeutic interventions. To facilitate transition from drug discovery to clinical trials, standardized procedures and natural disease history data were collected for these mouse models. Implementing the TREAD-NMD standardized operating procedures, we here subjected LGMD2D (SGCA-null), LGMD2F (SGCD-null) and wild type (C57BL/6J) mice to five functional tests from the age of 4 to 32 weeks. To assess whether the functional test regime interfered with disease pathology, sedentary groups were taken along. Muscle physiology testing of tibialis anterior muscle was performed at the age of 34 weeks. Muscle histopathology and gene expression was analysed in skeletal muscles and heart.Muscle histopathology and gene expression was analysed in skeletal muscles and heart. Mice successfully accomplished the functional tests, which did not interfere with disease pathology. Muscle function of SGCA- and SGCD-null mice was impaired and declined over time. Interestingly, female SGCD-null mice outperformed males in the two and four limb hanging tests, which proved the most suitable non-invasive tests to assess muscle function. Muscle physiology testing of tibialis anterior muscle revealed lower specific force and higher susceptibility to eccentric-induced damage in LGMD mice. Analyzing muscle histopathology and gene expression, we identified the diaphragm as the most affected muscle in LGMD strains. Cardiac fibrosis was found in SGCD-null mice, being more severe in males than in females. Our study offers a comprehensive natural history dataset which will be useful to design standardized tests and future pre-clinical studies in LGMD2D and 2F mice.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 99%

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Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F

et al. 2017

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“…Perturbation of the dystrophin glycoprotein complex and many of its components leads to muscle myopathies. More than 30 mouse models with various muscular dystrophy phenotypes have been generated by inactivating or mutating dystrophin glycoprotein complex components [reviewed in (743)].…”

Section: The Costamere: Protects Against Mechanical Stress and Is An mentioning

confidence: 99%

Overview of the Muscle Cytoskeleton

Henderson

Gomez

Novak

et al. 2017

Comprehensive Physiology

212

193

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Cardiac and skeletal striated muscles are intricately designed machines responsible for muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the complex cytoskeletal networks are critical for contractile activity. The sarcomere is comprised of precisely organized individual filament systems that include thin (actin), thick (myosin), titin, and nebulin. Connecting the sarcomere to other organelles (e.g., mitochondria and nucleus) and serving as the scaffold to maintain cellular integrity are the intermediate filaments. The costamere, on the other hand, tethers the sarcomere to the cell membrane. Unique structures like the intercalated disc in cardiac muscle and the myotendinous junction in skeletal muscle help synchronize and transmit force. Intense investigation has been done on many of the proteins that make up these cytoskeletal assemblies. Yet the details of their function and how they interconnect have just started to be elucidated. A vast number of human myopathies are contributed to mutations in muscle proteins; thus understanding their basic function provides a mechanistic understanding of muscle disorders. In this review, we highlight the components of striated muscle with respect to their interactions, signaling pathways, functions, and connections to disease.

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“…Although animal models for neuromuscular diseases exist and have been very useful for studying the genetics and other aspects of neuromuscular diseases [197]- [199], they have not been utilized to study the effects of hydrogen on these disorders. Instead, pilot clinical trials on the use of H 2 -enriched water in neuromuscular diseases have been attempted.…”

Section: Hydrogen and Neuromuscular Diseasesmentioning

confidence: 99%

Clinical Effects of Hydrogen Administration: From Animal and Human Diseases to Exercise Medicine

Nicolson¹,

Ferreira²,

Settineri³

et al. 2016

IJCM

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Here we review the literature on the effects of molecular hydrogen (H2) on normal human subjects and patients with a variety of diagnoses, such as metabolic, rheumatic, cardiovascular and neurodegenerative and other diseases, infections and physical and radiation damage as well as effects on aging and exercise. Although the effects of H2 have been studied in multiple animal models of human disease, such studies will not be reviewed in depth here. H2 can be administered as a gas, in saline implants or infusions, as topical solutions or baths or by drinking H2-enriched water. This latter method is the easiest and least costly method of administration. There are no safety issues with hydrogen; it has been used for years in gas mixtures for deep diving and in numerous clinical trials without adverse events, and there are no warnings in the literature of its toxicity or longterm exposure effects. Molecular hydrogen has proven useful and convenient as a novel antioxidant and modifier of gene expression in many conditions where oxidative stress and changes in gene expression result in cellular damage.

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What do mouse models of muscular dystrophy tell us about the DAPC and its components?

Cited by 19 publications

References 137 publications

Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F

Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F

Overview of the Muscle Cytoskeleton

Clinical Effects of Hydrogen Administration: From Animal and Human Diseases to Exercise Medicine

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