Energy expenditure, body composition, and prevalence of metabolic disorders in patients with Duchenne muscular dystrophy

Sauré, Carola; Caminiti, Carolina; Weglinski, Julieta; Perez, Fernanda de Castro; Monges, Soledad

doi:10.1016/j.dsx.2017.08.006

Cited by 48 publications

(54 citation statements)

References 27 publications

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“…This positive effect of taurine is probably mediated via anti-inflammatory, anti-oxidant and cyto-protective mechanisms [ 18 ]. Another interesting liver-related abnormality in the mdx mouse model of dystrophinopathy is decreased liver glycogen levels and hyperglycemia [ 19 ], which agrees with a mild glucose intolerance observed in Duchenne patients [ 20 , 21 ]. Based on these findings, it was of interest to investigate whether the dystrophic phenotype is associated with proteome-wide changes in liver tissue.…”

Section: Introductionmentioning

confidence: 62%

“…The proteomic profile of the mdx - 4cv liver showed differential changes in the concentration of enzymes involved in cellular carbohydrate metabolism, including increases in triokinase, which catalyses the phosphorylation of both glyceraldehyde and dihydroxyacetone [ 69 ]. A disturbed regulation of carbohydrate metabolism may be the underlying cause of decreased liver glycogen levels [ 19 ] and a mild glucose intolerance in dystrophinopathy [ 20 , 21 ]. Opposite concentration changes were established for two key enzymes of glycolysis, i.e.…”

Section: Discussionmentioning

confidence: 99%

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Proteomic profiling of liver tissue from the mdx-4cv mouse model of Duchenne muscular dystrophy

et al. 2018

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BackgroundDuchenne muscular dystrophy is a highly complex multi-system disease caused by primary abnormalities in the membrane cytoskeletal protein dystrophin. Besides progressive skeletal muscle degeneration, this neuromuscular disorder is also associated with pathophysiological perturbations in many other organs including the liver. To determine potential proteome-wide alterations in liver tissue, we have used a comparative and mass spectrometry-based approach to study the dystrophic mdx-4cv mouse model of dystrophinopathy.MethodsThe comparative proteomic profiling of mdx-4cv versus wild type liver extracts was carried out with an Orbitrap Fusion Tribrid mass spectrometer. The distribution of identified liver proteins within protein families and potential protein interaction patterns were analysed by systems bioinformatics. Key findings on fatty acid binding proteins were confirmed by immunoblot analysis and immunofluorescence microscopy.ResultsThe proteomic analysis revealed changes in a variety of protein families, affecting especially fatty acid, carbohydrate and amino acid metabolism, biotransformation, the cellular stress response and ion handling in the mdx-4cv liver. Drastically increased protein species were identified as fatty acid binding protein FABP5, ferritin and calumenin. Decreased liver proteins included phosphoglycerate kinase, apolipoprotein and perilipin. The drastic change in FABP5 was independently verified by immunoblotting and immunofluorescence microscopy.ConclusionsThe proteomic results presented here indicate that the intricate and multifaceted pathogenesis of the mdx-4cv model of dystrophinopathy is associated with secondary alterations in the liver affecting especially fatty acid transportation. Since FABP5 levels were also shown to be elevated in serum from dystrophic mice, this protein might be a useful indicator for monitoring liver changes in X-linked muscular dystrophy.

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Section: Introductionmentioning

confidence: 62%

Section: Discussionmentioning

confidence: 99%

Proteomic profiling of liver tissue from the mdx-4cv mouse model of Duchenne muscular dystrophy

et al. 2018

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“…The prevalence of obesity based on weight in the >90th percentile by 13 years of age has been reported to range from 44% to 73% in boys with DMD, whereas, at 17–18 years of age, undernutrition (weight < 10th percentile) was found to affect from 47% to 65% of boys with DMD in steroid‐naive cohorts . In patients receiving steroids, obesity can reach 50% based on BMI, and 70% using percentage of fat mass . In patients with DMD this is most likely because the myofibers are susceptible to necrosis and they become replaced by fibrous and adipose tissue .…”

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confidence: 99%

Body composition and body mass index in Duchenne muscular dystrophy: Role of dietary intake

et al. 2018

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“…Corticosteroid treatment can increase ambulation by 1–2 years, but the side effects limit its use 37. In a study, it was found that high prevalence of obesity was observed in patients with DMD administered steroids, with no correlation to steroid type, body composition or metabolic disorder, such as dyslipidaemia and insulin resistance 38. Approximately 90% of affected boys will develop severe scoliosis, which can be controlled by only surgical means before the onset of severe cardiopulmonary dysfunction 2.…”

Section: Clinical Picturementioning

confidence: 99%

Duchenne muscular dystrophy: genome editing gives new hope for treatment

Crispi

Matsakas

2018

Postgraduate Medical Journal

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Duchenne muscular dystrophy (DMD) is a progressive wasting disease of skeletal and cardiac muscles, representing one of the most common recessive fatal inherited genetic diseases with 1:3500-1:5000 in yearly incidence. It is caused by mutations in the DMD gene that encodes the membrane-associated dystrophin protein. Over the years, many have been the approaches to management of DMD, but despite all efforts, no effective treatment has yet been discovered. Hope for the development of potential therapeutics has followed the recent advances in genome editing and gene therapy. This review gives an overview to DMD and summarises current lines of evidence with regard to treatment and disease management alongside the appropriate considerations.

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Energy expenditure, body composition, and prevalence of metabolic disorders in patients with Duchenne muscular dystrophy

Cited by 48 publications

References 27 publications

Proteomic profiling of liver tissue from the mdx-4cv mouse model of Duchenne muscular dystrophy

Proteomic profiling of liver tissue from the mdx-4cv mouse model of Duchenne muscular dystrophy

Body composition and body mass index in Duchenne muscular dystrophy: Role of dietary intake

Duchenne muscular dystrophy: genome editing gives new hope for treatment

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