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1.
Met-myoglobin isolated from gluteal muscle of cases with Duchenne type of progressive muscular dystrophy showed an abnormal ultraviolet spectrum. The maximum of the spectrum at pH 7.0 was at 275 mmicro, in contrast to that at 281 m/ A in normal met-myoglobin. Such an abnormality was not found in the limb-girdle type of dystrophy and in progressive spinal muscular atrophy. The results indicate the presence of an abnormal myoglobin in the Duchenne type of progressive muscular dystrophy. 相似文献
2.
M O Scott J E Sylvester T Heiman-Patterson Y J Shi W Fieles H Stedman A Burghes P Ray R Worton K H Fischbeck 《Science (New York, N.Y.)》1988,239(4846):1418-1420
A probe for the 5' end of the Duchenne muscular dystrophy (DMD) gene was used to study expression of the gene in normal human muscle, myogenic cell cultures, and muscle from patients with DMD. Expression was found in RNA from normal fetal muscle, adult cardiac and skeletal muscle, and cultured muscle after myoblast fusion. In DMD muscle, expression of this portion of the gene was also revealed by in situ RNA hybridization, particularly in regenerating muscle fibers. 相似文献
3.
J S Chamberlain J A Pearlman D M Muzny R A Gibbs J E Ranier C T Caskey A A Reeves 《Science (New York, N.Y.)》1988,239(4846):1416-1418
Complementary DNA clones were isolated that represent the 5' terminal 2.5 kilobases of the murine Duchenne muscular dystrophy (Dmd) messenger RNA (mRNA). Mouse Dmd mRNA was detectable in skeletal and cardiac muscle and at a level approximately 90 percent lower in brain. Dmd mRNA is also present, but at much lower than normal levels, in both the muscle and brain of three different strains of dystrophic mdx mice. The identification of Dmd mRNA in brain raises the possibility of a relation between human Duchenne muscular dystrophy (DMD) gene expression and the mental retardation found in some DMD males. These results also provide evidence that the mdx mutations are allelic variants of mouse Dmd gene mutations. 相似文献
4.
Miyoshi K Saijo K Kuryu Y Oshima Y Nakano M Kawai H 《Science (New York, N.Y.)》1968,159(3816):736-737
Human metmyoglobin was separated electrophoretically into four subfractions: Mb(1), Mb(2), Mb(3), and Mb(4), which divide into at least two biochemically independent groups: Mb(1) and Mb(2), and Mb(3), and Mb(4). In normal subjects, Mb(1) constituted the predominant component; Mb(2), Mb(3), and Mb(4) were the minor components in this descending order. In the Duchenne type of progressive muscular dystrophy, on the contrary, a remarkable decrease in Mb(1) and a concomitant increase in Mb(3) were observed. This unique abnormality in the relative distribution of myoglobin subfractions was recognized only in the Duchenne type and not in other types of progressive muscular dystrophy or in other myopathies. 相似文献
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6.
Fibroblast growth factor in the extracellular matrix of dystrophic (mdx) mouse muscle 总被引：14，自引：0，他引：14
Polyclonal antibody F547 reacts with a bovine basic fibroblast growth factor (bFGF) and a human recombinant bFGF, but not with bovine acidic fibroblast growth factor. This antibody localized bFGF in the extracellular matrix of mouse skeletal muscle, primarily in the fiber endomysium, which includes the heparin-containing basal lamina. In mdx mouse muscle, which displays persistent regeneration, FGF levels in the extracellular matrix are higher than those in controls. Overabundance of matrix FGF in mdx muscles may be related to an increase in both satellite cell and regenerative activity in the dystrophic muscle and may help explain the benign phenotype of mdx animals compared with the genetically identical human Duchenne muscular dystrophy. 相似文献
7.
The genetic linkage map of the human X chromosome 总被引：50，自引：0，他引：50
A database useful for mapping the human X chromosome has been established. The data consist of the genotypic characterizations obtained at more than 20 DNA marker loci from a set of 38 selected families. Multilocus linkage analysis has provided an initial genetic map completely spanning the distance from the distal short arm to the distal long arm of the chromosome, for a total genetic length of at least 185 recombination units. Analysis of the recombinational behavior of fully marked chromosomes suggests that the number of recombination events on the X chromosome may be nonrandom. Linkage studies of six families that carry the mutation which causes Duchenne muscular dystrophy were combined with linkage data from a large number of normal families. This permitted mapping of the locus for Duchenne muscular dystrophy with greater precision and statistical confidence than studies in which disease families alone provided the genotypic database. This observation suggests that the normal linkage map of this chromosome should be especially valuable in the mapping of rare X-linked diseases. 相似文献
8.
S B Malhotra K A Hart H J Klamut N S Thomas S E Bodrug A H Burghes M Bobrow P S Harper M W Thompson P N Ray 《Science (New York, N.Y.)》1988,242(4879):755-759
Duchenne muscular dystrophy (DMD) and its less severe form Becker muscular dystrophy (BMD) are allelic disorders. It has been suggested that in the mutations involving BMD, the translational reading frame of messenger RNA is maintained and a smaller, though partially functional, protein is produced. In order to test this, the exon-intron boundaries of the first ten exons of the DMD gene were determined, and 29 patients were analyzed. In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested. 相似文献
9.
Erythrocyte deformation in human muscular dystrophy 总被引：2，自引：0，他引：2
Erythrocytes from patients with congenital muscular dystrophy exhibit dramatic surface deformation when observed with a scanning electron microscope. A similar alteration, but one affecting a smaller proportion of cells, occurs in the case of female carriers of the sex-linked Duchenne dystrophic condition. These observed changes in the erythrocyte surface may reflect a systemic defect in membrane properties. 相似文献
10.
Goyenvalle A Vulin A Fougerousse F Leturcq F Kaplan JC Garcia L Danos O 《Science (New York, N.Y.)》2004,306(5702):1796-1799
Most mutations in the dystrophin gene create a frameshift or a stop in the mRNA and are associated with severe Duchenne muscular dystrophy. Exon skipping that naturally occurs at low frequency sometimes eliminates the mutation and leads to the production of a rescued protein. We have achieved persistent exon skipping that removes the mutated exon on the dystrophin messenger mRNA of the mdx mouse, by a single administration of an AAV vector expressing antisense sequences linked to a modified U7 small nuclear RNA. We report the sustained production of functional dystrophin at physiological levels in entire groups of muscles and the correction of the muscular dystrophy. 相似文献
11.
Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy 总被引：19，自引：0，他引：19
S E Bodrug P N Ray I L Gonzalez R D Schmickel J E Sylvester R G Worton 《Science (New York, N.Y.)》1987,237(4822):1620-1624
The gene responsible for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) maps to the X chromosome short arm, band Xp21. In a few females with DMD or BMD, the Xp21 region is disrupted by an X-autosome translocation. Accumulating evidence suggests that the exchange has physically disrupted the DMD/BMD locus to cause the disease. One affected female with a t(X;21)(p21;p12) translocation was studied in detail. The exchange points from both translocation chromosomes were cloned, restriction-mapped, and sequenced. The translocation is reciprocal, but not conservative. A small amount of DNA is missing from the translocated chromosomes; 71 to 72 base pairs from the X chromosome and 16 to 23 base pairs from the 28S ribosomal gene on chromosome 21. 相似文献
12.
P Sicinski Y Geng A S Ryder-Cook E A Barnard M G Darlison P J Barnard 《Science (New York, N.Y.)》1989,244(4912):1578-1580
13.
Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes 总被引：11，自引：0，他引：11
R G Worton C Duff J E Sylvester R D Schmickel H F Willard 《Science (New York, N.Y.)》1984,224(4656):1447-1449
Duchenne muscular dystrophy (DMD) is a severe X-linked disorder leading to early death of affected males. Females with the disease are rare, but seven are known to be affected because of a chromosomal rearrangement involving a site at or near the dmd gene on the X chromosome. One of the seven has a translocation between the X and chromosome 21. The translocation-derived chromosomes from this patient have been isolated, and the translocation is shown to have split the block of genes encoding ribosomal RNA on the short arm of chromosome 21. Thus ribosomal RNA gene probes may be used to identify a junction fragment from the translocation site, allowing access to cloned segments of the X at or near the dmd gene and presenting a new approach to the study of this disease. 相似文献
14.
Increased activity of calcium leak channels in myotubes of Duchenne human and mdx mouse origin 总被引：25，自引：0，他引：25
Elevated free Ca2+ concentrations found in adult dystrophic muscle fibers result in enhanced protein degradation. Since the difference in concentrations may reflect differences in entry, Ca2+ leak channels in cultures of normal and Duchenne human myotubes, and normal and mdx murine myotubes, have been identified and characterized. The open probability of leak channels is markedly increased in dystrophic myotubes. Other channel properties, such as mean open times, single channel conductance, ion selectivity, and behavior in the presence of pharmacological agents, were similar among myotube types. Compared to the Ca2+ concentrations in normal human and normal mouse myotubes, intracellular resting free Ca2+ concentrations ([Ca2+]i) in myotubes of Duchenne and mdx origin were significantly higher at a time when dystrophin is first expressed in normal tissue. Taken together, these findings suggest that the increased open probability of Ca2+ leak channels contributes to the elevated free intracellular Ca2+ concentration in Duchenne human and mdx mouse myotubes. 相似文献
15.
Tension and intracellular free calcium concentration [( Ca2+]i) were measured simultaneously in single smooth muscle cells isolated from the anterior byssus retractor muscle (ABRM) of Mytilus edulis that were loaded with the fluorescent Ca2+ indicator fura-2. Electrical stimulation evoked a transient elevation of [Ca2+]i associated with a "catch" contraction. During the catch state, however, [Ca2+]i was effectively at its resting level and was unaffected by 5-hydroxytryptamine, which induced a rapid relaxation from catch. The results indicate that a maintained high [Ca2+]i is not required for the maintenance of catch tension in intact ABRM and that there was no significant change in [Ca2+]i upon abolition of catch. 相似文献
16.
Micelle formation between 5-hydroxytryptamine and adenosine triphosphate in platelet storage organelles 总被引：8，自引：0，他引：8
As judged by analytical ultracentrifugation, 5-hydroxytryptamine and adenosine-5'-triphosphate form micelles in artificial mixtures and also in storage organelles containing 5-hydroxytryptamine of blood platelets of rabbits. Their average apparent molecular weights depend on the concentration and on the molar ratio of the two constituents. The 5-hydroxytryptamine and adenosine triphosphate of these 5-hydroxytryptamine organelles may be stored in vivo together as micelles with apparent molecular weights of several hundred thousands or more. 相似文献
17.
By use of phenazine methosulfate and the "ncubation mixture film method," lactate dehydrogenase activity has been demonstrated in the dystrophic muscle fibers of strain 129 mice. The results indicate that for demonstration of lactate dehydrogenase activity in dystrophic muscle fibers phenazine methosulfate is necessary. This finding is typical for the "white" muscle fibers in the normal muscle and suggests that the dystrophy affects primarily the "white" muscle fibers. 相似文献
18.
M J Greenberg 《Science (New York, N.Y.)》1966,154(752):1015-1017
The pharmacology of acetylcholine and 5-hydroxytryptamine on the rectums of Katelysia rhytiphora and K. scalarina was found to be similar, in general, to that of other bivalves. However, while acetylcholine causes a fast twitch in the rectum of K. rhytiphora, the activity and tone of the K. scalarina rectum are depressed except at high concentrations of the drug. The two species can be distinguished by these responses, and, therefore, these rectums are useful experimental objects for studying the physiology of molluscan visceral muscle. 相似文献
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20.
Lysergic acid diethylamide: role in conversion of plasma tryptophan to brain serotonin (5-hydroxytryptamine) 总被引：1，自引：0，他引：1
Injections of D-lysergic acid diethylamide decrease the turnover rate of 5-hydroxytryptamine of rat brain, as measured from the conversion of (14)C-tryptophan into (14)C-5-hydroxytryptamine. The 2-bromolysergic acid diethylamide given in doses fivefold greater than those of lysergic acid diethylamide fails to change the rate of (14)C-tryptophan conversion into (14)C-5-hydroxytryptamine. The effect of D-lysergic acid diethylamide is discussed with regard to its action on brain serotonergic neurons and its psychotomimetic effects. 相似文献