Muscle membrane protein kinase in myotonic muscular dystrophy

Nature ◽  
1974 ◽  
Vol 250 (5463) ◽  
pp. 245-247 ◽  
Author(s):  
ALLEN D. ROSES ◽  
STANELY H. APPEL
Keyword(s):  
Protein Kinase ◽  
Muscular Dystrophy ◽  
Membrane Protein ◽  
Muscle Membrane ◽  
Myotonic Muscular Dystrophy

Membrane protein kinase alteration in Duchenne muscular dystrophy

Nature ◽  
1975 ◽  
Vol 254 (5498) ◽  
pp. 350-351 ◽  
Author(s):  
ALLEN D. ROSES ◽  
MICHAEL H. HERBSTREITH ◽  
STANLEY H. APPEL
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Protein Kinase ◽  
Muscular Dystrophy ◽  
Membrane Protein

Electron Microscopy of Fibroblasts from Myotonic Muscular Dystrophy Patients

1981 ◽  
Vol 39 ◽  
pp. 498-499
Author(s):  
S. E. Miller ◽  
G. B. Hartwig ◽  
R. A. Nielsen ◽  
A. P. Frost ◽  
A. D. Roses
Keyword(s):  
Electron Microscopy ◽  
Muscular Dystrophy ◽  
Genetic Diseases ◽  
Skin Fibroblasts ◽  
Inborn Errors ◽  
Cytoplasmic Inclusions ◽  
Cultured Skin ◽  
Myotonic Muscular Dystrophy ◽  
Glycosaminoglycan Metabolism

Many genetic diseases can be demonstrated in skin cells cultured in vitro from patients with inborn errors of metabolism. Since myotonic muscular dystrophy (MMD) affects many organs other than muscle, it seems likely that this defect also might be expressed in fibroblasts. Detection of an alteration in cultured skin fibroblasts from patients would provide a valuable tool in the study of the disease as it would present a readily accessible and controllable system for examination. Furthermore, fibroblast expression would allow diagnosis of fetal and presumptomatic cases. An unusual staining pattern of MMD cultured skin fibroblasts as seen by light microscopy, namely, an increase in alcianophilia and metachromasia, has been reported; both these techniques suggest an altered glycosaminoglycan metabolism An altered growth pattern has also been described. One reference on cultured skin fibroblasts from a different dystrophy (Duchenne Muscular Dystrophy) reports increased cytoplasmic inclusions seen by electron microscopy. Also, ultrastructural alterations have been reported in muscle and thalamus biopsies from MMD patients, but no electron microscopical data is available on MMD cultured skin fibroblasts.

scholarly journals Empowering Muscle Stem Cells for the Treatment of Duchenne Muscular Dystrophy

2021 ◽  
pp. 1-14
Author(s):  
Romina L. Filippelli ◽  
Natasha C. Chang
Keyword(s):  
Stem Cells ◽  
Stem Cell ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Cell Function ◽  
Critical Role ◽  
Membrane Integrity ◽  
Muscle Membrane ◽  
Muscle Stem Cell ◽  
Muscle Stem Cells

Duchenne muscular dystrophy (DMD) is a devastating and debilitating muscle degenerative disease affecting 1 in every 3,500 male births worldwide. DMD is progressive and fatal; accumulated weakening of the muscle tissue leads to an inability to walk and eventual loss of life due to respiratory and cardiac failure. Importantly, there remains no effective cure for DMD. DMD is caused by defective expression of the <i>DMD</i> gene, which encodes for dystrophin, a component of the dystrophin glycoprotein complex. In muscle fibers, this protein complex plays a critical role in maintaining muscle membrane integrity. Emerging studies have shown that muscle stem cells, which are adult stem cells responsible for muscle repair, are also affected in DMD. DMD muscle stem cells do not function as healthy muscle stem cells, and their impairment contributes to disease progression. Deficiencies in muscle stem cell function include impaired establishment of cell polarity leading to defective asymmetric stem cell division, reduced myogenic commitment, impaired differentiation, altered metabolism, and enhanced entry into senescence. Altogether, these findings indicate that DMD muscle stem cells are dysfunctional and have impaired regenerative potential. Although recent advances in adeno-associated vector and antisense oligonucleotide-mediated mechanisms for gene therapy have shown clinical promise, the current therapeutic strategies for muscular dystrophy do not effectively target muscle stem cells and do not address the deficiencies in muscle stem cell function. Here, we discuss the merits of restoring endogenous muscle stem cell function in degenerating muscle as a viable regenerative medicine strategy to mitigate DMD.

Activation of a pea membrane protein kinase by calcium ions

Planta ◽  
1984 ◽  
Vol 161 (5) ◽  
pp. 409-417 ◽  
Author(s):  
A. M. Hetherington ◽  
A. Trewavas
Keyword(s):  
Protein Kinase ◽  
Membrane Protein ◽  
Calcium Ions

Properties of Ca2+-activated K+ channels in erythrocytes from patients with myotonic muscular dystrophy

1998 ◽  
Vol 21 (11) ◽  
pp. 1465-1472 ◽  
Author(s):  
Mario Pellegrino ◽  
Monica Pellegrini ◽  
Paolo Bigini ◽  
Annalisa Scimemi
Keyword(s):  
Muscular Dystrophy ◽  
K Channels ◽  
Myotonic Muscular Dystrophy

Red blood cell and fibroblast membranes in Duchenne and myotonic muscular dystrophy

1980 ◽  
Vol 3 (1) ◽  
pp. 36-54 ◽  
Author(s):  
Allen D. Roses ◽  
Geoffrey B. Hartwig ◽  
Michael Mabry ◽  
Yasuho Nagano ◽  
Sara E. Miller
Keyword(s):  
Muscular Dystrophy ◽  
Blood Cell ◽  
Red Blood Cell ◽  
Myotonic Muscular Dystrophy

The Testis in Myotonic Muscular Dystrophy: A Clinical and Pathologic Study with a Comparison with the Klinefelter Syndrome1

1963 ◽  
Vol 23 (1) ◽  
pp. 59-75 ◽  
Author(s):  
WILLIAM D. DRUCKER ◽  
WILLIAM A. BLANC ◽  
LEWIS P. ROWLAND ◽  
MELVIN M. GRUMBACH ◽  
NICHOLAS P. CHRISTY
Keyword(s):  
Muscular Dystrophy ◽  
Pathologic Study ◽  
Myotonic Muscular Dystrophy
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