Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy—Implications for Therapies

Heydemann, Ahlke

doi:10.3390/nu10060796

Cited by 40 publications

(35 citation statements)

References 170 publications

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“…level (FetCO 2 ) remained rather low, indicating permanent hyperventilation tendency. Increasing evidence is emerging for a benefit of dietary therapy, especially in metabolic muscle diseases (14), but also in dystrophic disorders (15). However, among GSDs specific enzyme replacement therapy exists only in Pompe's disease (GSD II) (16).…”

Section: Discussionmentioning

confidence: 99%

Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

2020

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Background: A deficiency of muscle phosphofructokinase (PFKM) causes a rare metabolic muscle disease, the Tarui disease (Glycogen storage disease type VII, GSD VII) characterized by exercise intolerance with myalgia due to an inability to use glucose as an energy resource. No medical treatment for GSD VII currently exists. The aim of this study was to determine whether a dietary intervention with excessive fat intake would benefit GSD VII. Patient and Methods: A ketogenic diet (KD) intervention implemented as a modifiedAtkins diet was established for one patient with PFKM deficiency, with a low late lactate response and very high ammonia levels associated with exercise. We recorded the KD intervention for a total of 5 years with clinical and physiotherapeutic evaluations and regular laboratory parameters. Cardiopulmonary exercise testing, including breath gas analysis and venous lactate and ammonia measurements, was performed before KD and at 3, 8 months and 5 years after initiation of KD.Results: During the 5 years on KD, the patient's muscle symptoms had alleviated and exercise tolerance had improved. In exercise testing, venous ammonia had normalized, the lactate profile remained similar, but oxygen uptake and mechanical efficiency had increased and parameters showing ventilation had improved.Conclusions: This study is the first to show a long-term effect of KD in GSD VII with an alleviation of muscle symptoms, beneficial effects on breathing, and improvement in exercise performance and oxygen uptake. Based on these findings, KD can be recommended under medical and nutritional supervision for selected patients with GSD VII, although further research of this rare disease is warranted.

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Section: Discussionmentioning

confidence: 99%

Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

2020

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“…Aging and disease also accompany skeletal muscle loss (muscle atrophy) [1]. Loss of muscle mass results in slower wound healing and recovery from illness, physical disability, more inferior quality of life, and higher health care costs [2]. Skeletal muscle is not only crucial for physical performance but is also a significant contributing factor for maintaining energy homeostasis [2,3].…”

Section: Introductionmentioning

confidence: 99%

“…Loss of muscle mass results in slower wound healing and recovery from illness, physical disability, more inferior quality of life, and higher health care costs [2]. Skeletal muscle is not only crucial for physical performance but is also a significant contributing factor for maintaining energy homeostasis [2,3]. Skeletal muscle is involved in many metabolic pathways, such as the insulin-stimulated glucose uptake, fatty acid metabolism, and glycogen synthesis [4].…”

Section: Introductionmentioning

confidence: 99%

MiR-501-3p Forms a Feedback Loop with FOS, MDFI, and MyoD to Regulate C2C12 Myogenesis

Hou

Zhu

Huaqin

et al. 2019

Cells

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Skeletal muscle plays an essential role in maintaining body energy homeostasis and body flexibility. Loss of muscle mass leads to slower wound healing and recovery from illness, physical disability, poor quality of life, and higher health care costs. So, it is critical for us to understand the mechanism of skeletal muscle myogenic differentiation for maintaining optimal health throughout life. miR-501-3p is a novel muscle-specific miRNA, and its regulation mechanism on myoblast myogenic differentiation is still not clear. We demonstrated that FOS was a direct target gene of miR-501-3p, and MyoD regulated miR-501-3p host gene Clcn5 through bioinformatics prediction. Our previous laboratory experiment found that MDFI overexpression promoted C2C12 myogenic differentiation and MyoD expression. The database also showed there is an FOS binding site in the MDFI promoter region. Therefore, we hypothesize that miR-501-3p formed a feedback loop with FOS, MDFI, and MyoD to regulate myoblast differentiation. To validate our hypothesis, we demonstrated miR-501-3p function in the proliferation and differentiation period of C2C12 cells by transfecting cells with miR-501-3p mimic and inhibitor. Then, we confirmed there is a direct regulatory relationship between miR-501-3p and FOS, MyoD and miR-501-3p, FOS and MDFI through QPCR, dual-luciferase reporter system, and ChIP experiments. Our results not only expand our understanding of the muscle myogenic development mechanism in which miRNA and genes participate in controlling skeletal muscle development, but also provide treatment strategies for skeletal muscle or metabolic-related diseases in the future.

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“…Next to direct effects of lack of dystrophin on muscle damage, many secondary consequences, like disturbances in muscle metabolism are seen in DMD patients [5]. The continuous muscle damage leads to increased degeneration and regeneration, which also impacts energy, especially protein, demands.…”

Section: Discussionmentioning

confidence: 99%

“…The lack of dystrophin also has several metabolic consequences [5] and the impact and importance of healthy nutrition in DMD becomes more and more recognized [6]. One of the metabolic consequences are increased protein turnover and energy demands due to the continuous cycles of degradation and regeneration [7].…”

Section: Introductionmentioning

confidence: 99%

A modified diet does not ameliorate muscle pathology in a mouse model for Duchenne muscular dystrophy

et al. 2019

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Duchenne muscular dystrophy (DMD) is caused by a lack of dystrophin protein. Next to direct effects on the muscles, this has also metabolic consequences. The influence of nutrition on disease progression becomes more and more recognized. Protein intake by DMD patients may be insufficient to meet the increased demand of the constantly regenerating muscle fibers. This led to the hypothesis that improving protein uptake by the muscles could have therapeutic effects. The present study examined the effects of a modified diet, which composition might stimulate muscle growth, on disease pathology in the D2- mdx mouse model. D2- mdx males were fed with either a control diet or modified diet, containing high amounts of branched-chain amino acids, vitamin D 3 and ursolic acid, for six weeks. Our study indicates that the modified diet could not ameliorate the muscle pathology. No effects on bodyweight or weight of individual muscles were observed. Neither did the diet affect severity of fibrosis or calcification of the muscles.

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Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy—Implications for Therapies

Cited by 40 publications

References 170 publications

Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

MiR-501-3p Forms a Feedback Loop with FOS, MDFI, and MyoD to Regulate C2C12 Myogenesis

A modified diet does not ameliorate muscle pathology in a mouse model for Duchenne muscular dystrophy

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