Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Total activity of creatine kinase (CK), lactate dehydrogenase (LD), aldolase (Ald), glutamico-oxaloacetic transaminase (GOT), and LD-isoenzyme distribution was studied in serum and muscle biopsies from normal persons and 117 patients with different types of muscular dystrophy: 82 Duchenne type (DMD), 12 BEcker type, 7 facioscapulohumeral (FSHMD), and 16 limb girdle (LGMD). Total enzyme activity in sera and muscle homogenates was determined by spectrophotometric assays. LD isoenzymes were separated by electrophoresis on agarose gel plates in barbital buffer (pH 8.6), scanned and quantitated. The amounts of the 2 types (M and H) of LD isoenzymes were calculated and the ratio of M/H in serum and muscle was used as an index to differentiate among the types of muscular dystrophy. Serum enzyme activity was elevated to variable degrees reflecting a corresponding decrease in muscle enzymes in the different muscular dystrophies. Patterns of LD isoenzymes in serum and muscle were specific to each type of muscle disease. Increase in serum LD5 (the muscle LD fraction) was a common feature in muscle damage. Changes in the amounts of M and H types in the subunits of LD correlated to the existence and severity of muscle damage. The mean muscle M/H ratio was 6.4 in controls, 1.8 in early DMD, 0.1 in late DMD, 3.0 in Becker type, 3.8 in FSHMD and 3.9 in LGMD. The muscle LD isoenzyme distribution in DMD showed a shift toward a more aerobic fetal muscle pattern. This is a result of the gradual disappearance of the mature anaerobic LD-type (M) and the increase in synthesis of the aerobic fetal LD-type (H) during the progression of the disease. This report provides a comparative study of the LD isoenzyme patterns in muscular dystrophies which may help in differential diagnosis.
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PMID:Muscle and serum enzymes and isoenzymes in muscular dystrophies. 723 20

The systematic seek of an increased activity of the SCK among all newborns has permitted the detection of the Duchenne-type muscular dystrophy in the "Rhone-alpes" area. By the survey of 40,000 births during 5 years and the detection of 16 Duchenne-type muscular dystrophies the authors estimate the incidence of DMD at 1/6500 living new born boys. The number of false positives (1,5 p. 1000) is little and, up to now, no false negative has been recorded. A few boys and girls keep and increased activity of the SCK, and 3 boys hae a Becker-type muscular dystrophy.
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PMID:[Neonatal screening for duchenne myopathy by serum elevation of creatine phosphokinase activity. 5 years experience]. 733 42

The features of regional wall motion abnormalities of the left ventricle were analysed in 11 patients of congestive cardiomyopathy (CCM) in comparison with 22 patients of progressive muscular dystrophy (DMD) of Duchenne type who showed an abnormal motion of the left ventricle by echocardiography. Real time two-dimensional echocardiographic study demonstrated the following results: I) In CCM, (1) only 2 or less of 11 cases preserved a normal motion in each left ventricular segment, and the depression of wall motion of the left ventricle were thought to be generalized; (2) there were 9 cases with segmental wall motion abnormalities and 3 of them demonstrated ventricular aneurysms, and (3) the localizations of the segmental abnormalities varied in each case, and there was no apparent accumulation to any segments. II) In DMD, (1) all the cases showed depressed motions and 8 of them demonstrated a ventricular aneurysm in the posterior wall of the left ventricle (LVPW), (2) while, there was no case showing ventricular aneurysm in the segments other than LVPW, and about one third of all cases showed normal motion in those segments. From these results, we concluded as follows: 1) Although the depression of a wall motion of the left ventricle was generalized in CCM, this was not always uniform and the segmental abnormalities of a wall motion were frequently observed. The localization of the most severely disturbed segment varied in each case. 2) On the other hand, in DMD, the wall motion was disturbed more frequently and more severely in LVPW than in other ventricular segments.
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PMID:[Regional wall motion of the left ventricle in congestive cardiomyopathy: in comparison with progressive muscular dystrophy of Duchenne type (author's transl)]. 734 27

Dystrophin gene deletions account for up to 68% of all Duchenne (DMD) and Becker (BMD) muscular dystrophy mutations. In affected males, these deletions can be detected easily using multiplex PCR tests which monitor for exon presence. In addition, quantitative dosage screening can discriminate female carriers. We previously analyzed multiplex PCR products by gel electrophoresis and quantitation of fluorescently labeled primers with the Gene Scanner in order to test carrier status. These multiplex PCR protocols detect DMD gene deletions adequately, but require up to 18 pairs of fluorochrome-labeled primers. We previously described two alternative fluorescent labeling strategies, each with approximately 1,000-fold greater sensitivity than ethidium bromide staining, which can be used to quantify the products of multiplex PCR. The first method uses the DNA intercalating thiazole orange dye TOTO-1 to stain PCR products after 20 cycles. In the second method, fluorescein-12,2'-dUTP is incorporated into products during PCR as a fluorescent tag for subsequent quantitative dosage studies. Both methods label all multiplexed exons including the 506 bp exon 48 fragment that is difficult to detect and quantify by standard ethidium bromide staining. Using this approach, we determined DMD/BMD carrier status in 24 unrelated families using a fluorescent fragment analyzer. Analysis of fluorochrome-labeled PCR products facilitates quantitative multiplex PCR for gene-dosage analysis.
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PMID:Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategies. 751 Sep 32

Duchenne's dystrophy (DMD), a recessive chromosome X-related disease, is the most common and severe form of myopathy. The different theories (vascular, neurogenic, membraneous, calcic and auto-immune) formulated to account for this disease have not been swept away by the discovery of the DMD gene and the deficient protein, dystrophin, since the exact cellular role played by the latter is still unknown. Our work on skeletal muscle has demonstrated a mitochondrial deficiency of the calcium-specific protein, calmitine, in degenerating muscle of myopathic persons and animals. Considering its great affinity for calcium, this protein specific to skeletal muscle could be essential to mitochondrial calcium regulation and thus to the functioning of the entire muscle cell. Its deficiency in Duchenne's and Becker type muscular dystrophy could be due to a mitochondrial genome alteration solely accountable for muscular degeneration. This hypothesis challenges the supposedly essential but still undefined role that researchers have attributed to dystrophin.
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PMID:Muscular degeneration in Duchenne's dystrophy may be caused by a mitochondrial defect. 766 33

Duchenne (DMD) and Becker (BMD) muscular dystrophy are allelic X-linked recessive diseases caused by a mutation in the dystrophin gene located on the short arm of chromosome X (Xp21). The dystrophin gene is the largest gene known in humans, extending over 2300 kb and containing more than 70 exons coding for a 420 KD protein comprising 3685 amino acids. The gene is highly unstable, with a high percentage of deletions and rearrangements. A third of dystrophin mutations are new mutations. The frequency of DMD is 1:3500 liveborn males, and that of BMD 1:10000. These dystrophies are severe, progressive, and lethal. BMD/DMD patients and 2/3 of female carriers have high levels of creatine phosphokinase (CK). During the past 5 years, 169 families with patients affected by progressive muscular dystrophy were examined and counselled. We were able to exclude the diagnosis of DMD/BMD in 49 families on the basis of clinical symptoms and signs, normal dystrophin on biopsy (11 families) and/or the absence of linkage to chromosome X by analysis of RFLP derived haplotypes. Molecular analysis was performed on 111 DMD/BMD families (five BMD and 106 DMD) with 81 available probands. This study resulted in the establishment in Israel of an integrated diagnostic protocol for DMD/BMD, employing genetic, biochemical and molecular techniques. Molecular analysis provided most of the families with new and essential information.
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PMID:A molecular survey of Israeli Duchenne and Becker muscular dystrophy patients. 785 72

Muscular biopsy specimens of 24 cases of pseudo-hypertrophic (Duchenne's) muscular dystrophy (DMD) were studied with light and electron microscopy. Ultrastructural changes include: I. Disappearance of sarcolemma in focal areas of muscle fibers with degeneration or focal necrosis, which may be the preliminary muscle fiber changes in DMD. 2. Repair of sarcolemma and regenerative sarcomere were observed in some injured muscle fibers, but the ability to repair and regeneration being so weak that injured muscle fibers can not be completely restored. 3. In the early stage of DMD when muscle fibers have not yet to become obviously atrophied, fat cell infiltration between swollen or intact muscle fibers can be observed but cannot be explained. In addition, 3 carriers (mothers of 3 DMD patients) and one asymptomatic brother of a DMD patient were examined, some serological and ultrastructural changes were found.
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PMID:[Ultrastructural observations on 24 cases of pseudo-hypertrophic muscular dystrophy]. 795 55

Myocardial involvement is frequently present in Xp21-linked muscular dystrophy, due to a lack of dystrophin in cardiac fibres. We describe a 41-yr-old man affected by dilated cardiomyopathy with sporadic episodes of myoglobinuria induced by effort and increased levels of serum creatine kinase. Very mild signs of skeletal myopathy were clinically evident. His mother was affected by an indefinite cardiopathy and suddenly died when she was 36 yr old. Muscle biopsy of the patient showed a dystrophic process. Dystrophin analysis together with a genetic DMD locus study led us to diagnose Becker type muscular dystrophy, with truncated dystrophin and a gene deletion extending from exon 45 to 48. Prevalent cardiac involvement in a Becker type mutation of the dystrophin gene further confirms clinical variability of dystrophinopathies.
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PMID:Prevalent cardiac involvement in dystrophin Becker type mutation. 798 95

Morphological, morphometrical, histoenzymological, immunocytochemical and biochemical analysis were performed on muscle biopsies taken from patients suffering from tunisian autosomal recessive Duchenne-like muscular dystrophy (TDLMD) selected both by Duchenne-like clinical criteria and by the presence of normal dystrophin. Data were compared to that obtained from DMD biopsies characterized by the absence of dystrophin. The distribution of myosin heavy chain isoforms, desmin, vimentin and titin were determined in type I and type II muscle fibers. The protein pattern appeared to be less affected in TDLMD than in DMD biopsies. The regenerating fibers were mainly but not exclusively type IIC; a noticeable percentage of both type I and type II fibers coexpressed fast and slow MHC isoforms in TDLMD. This percentage was lower than in DMD. The expression of embryonic, fetal, and fast/slow myosin isoforms in type IIC fibers in TDLMD and DMD suggest different fiber type transformations in these two diseases.
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PMID:Expression of myosin isoforms and of desmin, vimentin and titin in Tunisian Duchenne-like autosomal recessive muscular dystrophy. 806 3

We report on multicolor fluorescence in situ hybridization protocols for the simultaneous visualization of deletion-prone regions for carrier detection of Duchenne/Becker (DMD/BMD) muscular dystrophy. Cosmid and yeast artificial chromosome (YAC) clones specific for preferentially deleted subregions of the dystrophin gene were labeled differentially and detected with three different fluorochromes using digital imaging microscopy. This approach allows for an assessment of the carrier status of female relatives even in families where no index patient is available. Cosmid and YAC clones, and different probe-generation protocols are compared with respect to their feasibility for carrier detection. The use of histone-depleted interphase nuclei (Halo-preparations) for deletion mapping is demonstrated and shown to have a resolution power of 5 kb.
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PMID:Multicolor fluorescence in situ hybridization on metaphase chromosomes and interphase Halo-preparations using cosmid and YAC clones for the simultaneous high resolution mapping of deletions in the dystrophin gene. 812 73


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