scholarly journals Genetic modifiers of respiratory function in Duchenne muscular dystrophy

2020 ◽  
Vol 7 (5) ◽  
pp. 786-798
Author(s):  
Luca Bello ◽  
Grazia D’Angelo ◽  
Matteo Villa ◽  
Aurora Fusto ◽  
Sara Vianello ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Respiratory Function ◽  
Genetic Modifiers

P1.12 Duchenne muscular dystrophy and optoelectronic plethysmography: A longitudinal study of respiratory function

2011 ◽  
Vol 21 (9-10) ◽  
pp. 645
Author(s):  
M.G. D’Angelo ◽  
M. Romei ◽  
A. Lo Mauro ◽  
E. Marchi ◽  
S. Gandossini ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Respiratory Function ◽  
Optoelectronic Plethysmography

Respiratory function in eteplirsen-treated Duchenne muscular dystrophy (DMD) patients compared to natural history

2016 ◽  
Vol 26 ◽  
pp. S154
Author(s):  
B. Kinane ◽  
O. Mayer ◽  
L. Lowes ◽  
N. Khan ◽  
K. Gallitano ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Natural History ◽  
Respiratory Function

scholarly journals Genetic Modifiers of Duchenne Muscular Dystrophy in Chinese Patients

2020 ◽  
Vol 11 ◽  
Author(s):  
Menglong Chen ◽  
Liang Wang ◽  
Yaqin Li ◽  
Yongjun Chen ◽  
Huili Zhang ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Chinese Patients ◽  
Genetic Modifiers

The effect of spine fusion on respiratory function in Duchenne muscular dystrophy

Neurology ◽  
1991 ◽  
Vol 41 (1) ◽  
pp. 38-38 ◽  
Author(s):  
R. G. Miller ◽  
A. C. Chalmers ◽  
H. Dao ◽  
A. Filler-Katz ◽  
D. Holman ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Respiratory Function ◽  
Spine Fusion

scholarly journals Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy

2017 ◽  
Vol 114 (23) ◽  
pp. 6080-6085 ◽  
Author(s):  
Natassia M. Vieira ◽  
Janelle M. Spinazzola ◽  
Matthew S. Alexander ◽  
Yuri B. Moreira ◽  
Genri Kawahara ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Neuromuscular Diseases ◽  
Genetic Modifiers ◽  
Cardiorespiratory Failure ◽  
Transfer Protein ◽  
Phosphorylated Akt ◽  
Phosphatidylinositol Transfer Protein ◽  
Phosphatidylinositol Transfer ◽  
Dystrophin Protein

Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by X-linked inherited mutations in the DYSTROPHIN (DMD) gene. Absence of dystrophin protein from the sarcolemma causes severe muscle degeneration, fibrosis, and inflammation, ultimately leading to cardiorespiratory failure and premature death. Although there are several promising strategies under investigation to restore dystrophin protein expression, there is currently no cure for DMD, and identification of genetic modifiers as potential targets represents an alternative therapeutic strategy. In a Brazilian golden retriever muscular dystrophy (GRMD) dog colony, two related dogs demonstrated strikingly mild dystrophic phenotypes compared with those typically observed in severely affected GRMD dogs despite lacking dystrophin. Microarray analysis of these “escaper” dogs revealed reduced expression of phosphatidylinositol transfer protein-α (PITPNA) in escaper versus severely affected GRMD dogs. Based on these findings, we decided to pursue investigation of modulation of PITPNA expression on dystrophic pathology in GRMD dogs, dystrophin-deficient sapje zebrafish, and human DMD myogenic cells. In GRMD dogs, decreased expression of Pitpna was associated with increased phosphorylated Akt (pAkt) expression and decreased PTEN levels. PITPNA knockdown by injection of morpholino oligonucleotides in sapje zebrafish also increased pAkt, rescued the abnormal muscle phenotype, and improved long-term sapje mutant survival. In DMD myotubes, PITPNA knockdown by lentiviral shRNA increased pAkt and increased myoblast fusion index. Overall, our findings suggest PIPTNA as a disease modifier that accords benefits to the abnormal signaling, morphology, and function of dystrophic skeletal muscle, and may be a target for DMD and related neuromuscular diseases.

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