High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia.

  title={High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia.},
  author={Zoe White and Chady H Hakim and Marine Theret and N. Nora Yang and Fabio M. V. Rossi and D Cox and Gordon A. Francis and Volker Straub and Kathryn Selby and Constadina Panagiotopoulos and Dongsheng Duan and Pascal Bernatchez},
  journal={Journal of clinical lipidology},
BACKGROUND Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic X-linked recessive muscle diseases caused by mutations in the DMD gene, with DMD being the more severe form. We have recently shown that increased plasma low-density lipoprotein-associated cholesterol causes severe muscle wasting in the mdx mouse, a mild DMD model, which suggested that plasma lipids may play a critical role in DMD. We have also observed that loss of dystrophin in mice causes unexpected… 
Cholesterol metabolism is a potential therapeutic target in Duchenne Muscular Dystrophy
This investigation supports that cholesterol metabolism and the mevalonate pathway are potential therapeutic targets in DMD.
Cholesterol absorption blocker ezetimibe prevents muscle wasting in severe dysferlin-deficient and mdx mice.
Whether cholesterol could exacerbate the muscle wasting process observed in severe rodent MD is investigated and specific inhibition of cholesterol absorption with ezetimibe may safely attenuate human MD severity and delay death.
Plasma lipidomic analysis shows a disease progression signature in mdx mice
Analysis of serum and plasma samples show how several lipids are affected in dystrophic mice affected by muscular dystrophy, the basis to further investigations to understand how the lipid signature relates to the disease biology and muscle performance.
Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy
A molecular mechanism of metabolic perturbation in DMD is characterized and a recently emphasized secondary aspect of the dystrophic process is a progressive metabolic change of thedystrophic tissue; however, the mechanism and nature of the metabolic dysregulation are yet poorly understood.
Effect of Dysferlin Deficiency on Atherosclerosis and Plasma Lipoprotein Composition Under Normal and Hyperlipidemic Conditions
This study suggests that dysferlin does not protect against atherosclerosis or participate in cholesterol absorption blockade but regulates basal plasma lipoprotein composition, and patients with Dysferlinopathic patients may be dyslipidemic without greater atherosclerotic burden while remaining responsive toolesterol absorption blockade.
In vitro assessment of anti-fibrotic activity does not predict their in vivo efficacy in murine models of Duchenne muscular dystrophy.
It is hypothesize that in Duchenne Muscular Dystrophy, in which fibrosis is a secondary event due to chronic degeneration and inflammation, the drugs tested could have adverse effect on regeneration or inflammation, balancing off any positive effects and leading to the absence of significant results.
The Donnan-dominated resting state of skeletal muscle fibers contributes to resilience and longevity in dystrophic fibers.
Boosting operational pump-strength and/or diminishing sodium and cation channel leaks should help extend DMD fiber longevity and show how chronic "nonosmotic" sodium overload develops.
Identification of key pathways and hub genes in the myogenic differentiation of pluripotent stem cell: a bioinformatics and experimental study
The research revealed the potential hub genes and key pathways after 4-week differentiation of stem cells which contribute to further study about the molecular mechanism of myogenesis regeneration, paving a way for more accurate treatment for muscle dysfunction.


Increased plasma lipid levels exacerbate muscle pathology in the mdx mouse model of Duchenne muscular dystrophy
It is suggested that plasma lipids could be primary contributors to human DMD severity and that the notoriously mild phenotype of mdx mice might be attributable in part to their endogenously low plasma lipid profiles, and DMD patients may benefit from lipid-lowering and vascular-targeted therapies.
Age‐dependent changes in metabolite profile and lipid saturation in dystrophic mice
Associations between MRI‐T2, a strong indicator of inflammation/edema, with tissue and serum lipid profiles indicate the complex temporal changes of metabolite and lipid profiles during repetitive bouts of muscle damage and regeneration that occur in dystrophic muscle.
The role of free radicals in the pathophysiology of muscular dystrophy.
Current knowledge supports the likelihood that interactions between the primary genetic defect and disruptions in the normal production of free radicals contribute to the pathophysiology of muscular dystrophies.
Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B[S]
Data suggest that cholesterol may be deleterious to Dysferlinopathic muscle and lead to ambulatory dysfunction, and differences in plasma lipid handling between mice and humans could be a key factor affecting dysferlinopathy severity.
A new therapeutic effect of simvastatin revealed by functional improvement in muscular dystrophy
It is shown that simvastatin dramatically improves muscle strength and fatigue resistance in DMD (mdx) mice and substantially improves the overall health and function of dystrophic skeletal muscles and may provide an unexpected, novel therapy for DMD and related neuromuscular diseases.
An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed
The new corgi DMD model originally derived from the Pembroke Welsh corgi breed offers an excellent opportunity to study DMD pathogenesis and to develop novel therapies.
High resolution NMR based analysis of serum lipids in Duchenne muscular dystrophy patients and its possible diagnostic significance
Proton NMR spectroscopic investigations on the lipid extract of the serum of Duchenne muscular dystrophy patients and healthy subjects in the northern Indian population may provide the possibility of the diagnostic importance for DMD, especially in cases where genetic analysis fails to provide the diagnosis.
Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy
The field has reached the stage at which the results in mdx mice can be validated and scaled-up in symptomatic large animals, and the canine DMD (cDMD) model will be excellent for these studies.
Microdystrophin Gene Therapy of Cardiomyopathy Restores Dystrophin-Glycoprotein Complex and Improves Sarcolemma Integrity in the Mdx Mouse Heart
The results revealed the promise of AAV-microdystrophin gene therapy for cardiomyopathy in DMD and established a simple gene transfer method for efficient and persistent transduction of the mdx mouse heart.
Abnormal lipid metabolism in skeletal muscle tissue of patients with muscular dystrophy: In vitro, high-resolution NMR spectroscopy based observation in early phase of the disease.
Results clearly indicate alteration of lipid metabolism in patients with muscular dystrophy in early phase of the disease.