geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin


, : A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin. Neuromuscular Disorders 5(5): 429-438

We report a 4-yr and 5-month-old boy with severe clinical features of an early-onset Duchenne muscular dystrophy, who had a very short (110 kDa) dystrophin at the sarcolemma. The patient had a large deletion (exons 2-44) of the dystrophin gene which was predicted to cause a reading frame shift. Sequence analysis of dystrophin mRNA in muscle revealed an alternatively spliced gene product from exons 1 to 51 that caused restoration of the reading frame, in addition to an mRNA corresponding to the DNA deletion. A consistent result was obtained by immunocytochemical analysis of muscle; i.e. positive staining for dystrophin at the sarcolemma using antibodies against the C-terminus, cysteine-rich region and last three of 24 repeat units of the central rod-domain, but not for the remaining antibodies for dystrophin that recognize the N-terminal and proximal rod-domains. Immunostaining for dystrophin-associated glycoproteins (DAGs: 43 and 50 K) and merosin were preserved. Utrophin staining was positive but fainter than other DMD muscles. These results suggest that an extremely short dystrophin lacking the entire actin-binding site in the N-terminus cannot function properly even if the protein possesses the putative DAG-binding cysteine-rich and the C-terminal domains, and still has an ability to associate with sarcolemmal membrane.

US$29.90

PMID: 7496177


Other references

Chance, O., 1949: Some aspects of radio-therapy. Journal. Medical Association of Eire 25(147): 44-46

Savage, M.; Yang, S.; Suyetin, M.; Bichoutskaia, E.; Lewis, W.; Blake, A.J.; Barnett, S.A.; Schröder, M., 2014: A novel bismuth-based metal-organic framework for high volumetric methane and carbon dioxide adsorption. Solvothermal reaction of H4L (L = biphenyl-3,3',5,5'-tetracarboxylate) and Bi(NO3)3⋅(H2O)5 in a mixture of DMF/MeCN/H2O in the presence of piperazine and nitric acid at 100 °C for 10 h affords the solvated metal-organic polymer [B...

Dworkin, S.I.; Goeders, N.E.; Smith, J.E., 1986: The reinforcing and rate effects of intracranial dopamine administration. Nida Research Monograph 67: 242-248

Hackmann, M., 2005: Significance of urinary incontinence for nursing care. Krankenpflege Journal 43(4-6): 89-92

Mazurek, M.F.; Krasnik, C.E.; Rosebush, P.; Garside, S., 2001: Antipsychotic drugs activate prostate apoptosis response-4 and caspase-3 in midbrain dopamine neurons of young animals co-treated with 3-nitroproprionic acid. We previously showed that antipsychotic drugs (APDs) can induce apoptotic cell death of midbrain dopamine neurons in old animals. We studied whether APDs could activate the apoptosis cascade in younger animals with compromised mitochondrial functi...

Gross, D.J.; Ratner, J.; Perez, J.; Glavin, S.L., 1995: International pharmaceutical spending controls: France, Germany, Sweden, and the United Kingdom. France, Germany, Sweden, and the United Kingdom each use different types of policies for controlling prescription drug spending. Until recent years, these policies have relied heavily on regulating prices charged by drug manufacturers, with differ...

Hoyer, J.D.; Markley, K.M.; Savedra, M.E.; Kubik, K.S.; Scheidt, R.M., 2010: An evaluation of the SPIFE 3000 semi-automated gel electrophoresis system for the identification of hemoglobin variants and comparison of relative electrophoretic mobilities with manual gel electrophoresis methods. Laboratory identification of hemoglobin (Hb) variants can involve multiple techniques. The use of semi-automated instruments that perform gel electrophoresis and staining, such as the SPIFE 3000 electrophoresis system, can greatly reduce the labor...

Pineiro, J.; Harris, W., 1978: Performance of mixture of rye grass cultivars and prairie grass with red clover cultivars under 2 grazing frequencies part 1 herbage production in the establishment year. Seasonal production of 6 grass-legume [Trifolium pratense 'Grasslands [G.] Hamat' + Bromus catharticus 'G. 'Matua'; T. pratense 'G. Turoa' + B. catharticus 'G. Matua'; T. pratense 'G. Pawera'...

Schnitzer, J.E.; Liu, J.; Oh, P., 1995: Endothelial caveolae have the molecular transport machinery for vesicle budding, docking, and fusion including VAMP, NSF, SNAP, annexins, and GTPases. Transport by discrete vesicular carriers is well established at least in part because of recent discoveries identifying key protein mediators of vesicle formation, docking, and fusion. A general mechanism sensitive to N-ethylmaleimide (NEM) is req...

Lemon, H.B.; Blodgett, K., 1919: The Relative Adsorption of Mixtures of Oxygen and Nitrogen in Cocoanut Shell Charcoal. Proceedings of the National Academy of Sciences of the United States of America 5(7): 289-291