scholarly journals Absence of α7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy

2006 ◽  
Vol 15 (6) ◽  
pp. 989-998 ◽  
Author(s):  
Chun Guo ◽  
Michael Willem ◽  
Alexander Werner ◽  
Gennadij Raivich ◽  
Michael Emerson ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Deficient Mice

scholarly journals The Failed Clinical Story of Myostatin Inhibitors against Duchenne Muscular Dystrophy: Exploring the Biology behind the Battle

Cells ◽  
2020 ◽  
Vol 9 (12) ◽  
pp. 2657
Author(s):  
Emma Rybalka ◽  
Cara Timpani ◽  
Danielle Debruin ◽  
Ryan Bagaric ◽  
Dean Campelj ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Data ◽  
Muscle Wasting ◽  
Secondary Outcome ◽  
Disease Course ◽  
Biological Mechanisms ◽  
Inhibitor Development ◽  
Myostatin Inhibition ◽  
Deficient Mice

Myostatin inhibition therapy has held much promise for the treatment of muscle wasting disorders. This is particularly true for the fatal myopathy, Duchenne Muscular Dystrophy (DMD). Following on from promising pre-clinical data in dystrophin-deficient mice and dogs, several clinical trials were initiated in DMD patients using different modality myostatin inhibition therapies. All failed to show modification of disease course as dictated by the primary and secondary outcome measures selected: the myostatin inhibition story, thus far, is a failed clinical story. These trials have recently been extensively reviewed and reasons why pre-clinical data collected in animal models have failed to translate into clinical benefit to patients have been purported. However, the biological mechanisms underlying translational failure need to be examined to ensure future myostatin inhibitor development endeavors do not meet with the same fate. Here, we explore the biology which could explain the failed translation of myostatin inhibitors in the treatment of DMD.

scholarly journals The Failed Clinical Story of Myostatin Inhibitors Against Duchenne Muscular Dystrophy: Exploring the Biology Behind the Battle

2020 ◽  
Author(s):  
Emma Rybalka ◽  
Cara Timpani ◽  
Danielle Debruin ◽  
Ryan Bagaric ◽  
Dean Campelj ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Data ◽  
Muscle Wasting ◽  
Disease Course ◽  
Biological Mechanisms ◽  
Outcomes Measures ◽  
Myostatin Inhibition ◽  
Secondary Outcomes ◽  
Deficient Mice

Myostatin inhibition therapy has held much promise for the treatment of muscle wasting disorders. This is particularly true for the fatal myopathy, Duchenne Muscular Dystrophy (DMD). Following on from promising pre-clinical data in dystrophin-deficient mice and dogs, several clinical trials were initiated in DMD patients using different modality myostatin inhibition therapies. All failed to show modification of disease course as dictated by the primary and secondary outcomes measures selected: the myostatin inhibition story thus far, is a failed clinical story. These trials have recently been extensively reviewed and reasons why pre-clinical data collected in animal models has failed to translate into clinical benefit to patients has been purported. However, the biological mechanisms underlying translational failure need to be examined to ensure future myostatin inhibitor development endeavors do not meet with the same fate. Here, we explore the biology which could explain the failed translation of myostatin inhibitors in the treatment of DMD.

scholarly journals Utrophin-Dystrophin-Deficient Mice as a Model for Duchenne Muscular Dystrophy

Cell ◽  
1997 ◽  
Vol 90 (4) ◽  
pp. 717-727 ◽  
Author(s):  
Anne E Deconinck ◽  
Jill A Rafael ◽  
Judith A Skinner ◽  
Susan C Brown ◽  
Allyson C Potter ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Deficient Mice

scholarly journals Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible Association

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110414
Author(s):  
Erika Chandler ◽  
Lauren Rawson ◽  
Robert Debski ◽  
Kerry McGowan ◽  
Arpita Lakhotia
Keyword(s):  
Intellectual Disability ◽  
Respiratory Failure ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Literature Review ◽  
Gene Mutation ◽  
Animal Studies ◽  
Comprehensive Literature Review ◽  
Dmd Gene ◽  
Deficient Mice

Duchenne muscular dystrophy (DMD), caused by a mutation in the DMD gene, is known to be associated with co-morbidities including cardiomyopathy, respiratory failure, neuromuscular scoliosis and intellectual disability. Animal studies have explored the susceptibility of dystrophin-deficient mice with the development of myogenic tumors. While there is adequate literature describing both DMD and rhabdomyosarcoma (RMS) separately, there has yet to be a comprehensive literature review investigating the possibility that patients with DMD may be at a higher risk of developing RMS and other myogenic tumors. We present the case of a pediatric patient with DMD who developed alveolar RMS and review the literature for susceptibility to development of myogenic tumors in cases of DMD gene mutation.

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