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  • 1
    Digitale Medien
    Digitale Medien
    Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA^L^e^u^(^U^U^R^)]
    Amsterdam : Elsevier
    FEBS Letters 286 (1991), S. 67-70 
    Details
    ISSN: 0014-5793
    Schlagwort(e): Encephalopathy ; MELAS ; Mitochondrial DNA mutation ; Myopathy ; Respiratory chain
    Quelle: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Thema: Biologie , Chemie und Pharmazie , Physik
    Materialart: Digitale Medien
    URL: http://linkinghub.elsevier.com/retrieve/pii/0014-5793(91)80942-V
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  • 2
    Digitale Medien
    Digitale Medien
    Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNA^L^e^u^(^U^U^R^) gene
    Amsterdam : Elsevier
    FEBS Letters 321 (1993), S. 194-196 
    Details
    ISSN: 0014-5793
    Schlagwort(e): Cardiomyopathy ; Deafness ; Diabetes ; MELAS ; mtDNA mutation
    Quelle: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Thema: Biologie , Chemie und Pharmazie , Physik
    Materialart: Digitale Medien
    URL: http://linkinghub.elsevier.com/retrieve/pii/0014-5793(93)80106-5
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  • 3
    Digitale Medien
    Digitale Medien
    Ultrastructural abnormalities of mitochondria and deficiency of myocardial cytochromec oxidase in a patient with ventricular tachycardia (1991)
    Springer
    Virchows Archiv 419 (1991), S. 63-68 
    Details
    ISSN: 1432-2307
    Schlagwort(e): Mitochondrial cardiomyopathy ; Ultrastructure ; Cytochromec oxidase deficiency ; Ventricular tachycardia
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary A 30-year-old woman presented with lifethreatening ventricular tachycardia without overt heart disease. Ultrastructural investigation of endomyocardial biopsy disclosed abnormally structured and often enlarged mitochondria. Morphometry revealed the ratio of volume density of mitochondria to myofibrils to be markedly increased to 0.667 as compared with five controls (mean: 0.46; range: 0.445–0.479). Investigation of mitochondrial respiratory chain enzymes revealed a 90% reduction in activity of cytochromec oxidase. Our data suggest that mitochondrial cardiomyopathy may induce malignant ventricular arrhythmias.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01600154
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  • 4
    Digitale Medien
    Digitale Medien
    Mitochondrial respiratory chain enzyme activities in tetralogy of Fallot (1994)
    Springer
    Journal of molecular medicine 72 (1994), S. 358-363 
    Details
    ISSN: 1432-1440
    Schlagwort(e): Tetralogy of Fallot ; Coronary artery disease ; Respiratory chain ; Mitochondria
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract It has been suggested that myocardial ischemia is associated with a reduction in mitochondrial complex I activity. Respiratory chain enzyme activities were measured in right ventricular biopsies of eight infants with tetralogy of Fallot (TF), left ventricular biopsies of one of the infants with TF, right and left ventricular tissue of seven transplant recipients with atherosclerotic coronary artery disease (CAD), and in right ventricular biopsies of one infant without cardiac pathology (normal control). In right ventricular tissue the specific activity of complexes I+III was significantly lower in TF than in CAD (3.8 ± 2.7 vs 23 ± 12 nmol min−1 mg−1 non-collagen protein). In the right ventricular control specimen the activity of complexes 1+111 was 13.7-fold standard deviation higher than in TF and 1.5-fold higher than in CAD. Left ventriclular respiratory chain enzyme activities measured in one patient with TF were lower than those in patients with CAD. Enzyme activities of left ventricular tissue were not significantly different from those of the right ventricle in CAD. The activity of the mitochondrial matrix enzyme citrate synthase did not differ between groups. The data indicate that the prominent reduction of complex I activity found in myocardial ischemia due to CAD is even more pronounced in myocardial hypoxemia due to TF.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00252828
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  • 5
    Digitale Medien
    Digitale Medien
    Myotonic dystrophy and limb girdle muscular dystrophy in one family (1994)
    Springer
    Journal of molecular medicine 72 (1994), S. 409-413 
    Details
    ISSN: 1432-1440
    Schlagwort(e): Myotonic dystrophy ; Limb girdle muscular dystrophy ; Genetics
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A family is reported in which a 29-year-old woman showed the clinical features of myotonic dystrophy while her 26-year-old brother presented with the clinical picture of limb girdle syndrome. In the affected female, direct genetic testing for the specific myotonic dystrophy mutation on chromosome 19 revealed abnormal expansion of a repeat unit containing the three nucleotides cytosine, thymine, and guanine (CTG) — typical for myotonic dystrophy — while her diseased brother displayed two normal alleles. This supports the hypothesis of the extremely rare occurrence of two clinically and genetically different myopathies in one family. Genetic analysis of six other family members showed that the father of the diseased siblings as well as all of his three brothers and sisters had a pathological CTG repeat expansion, and that the other two family members tested had a normal allelic pattern. The number of CTG repeats in the diseased women was approximately tenfold higher than in her asymptomatic relatives who revealed an abnormal allelic pattern. The increase in CTG repeats with transmission to a subsequent generation in this family was paralleled by a dramatic increase in the severity of myotonic dystrophy.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00252840
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  • 6
    Digitale Medien
    Digitale Medien
    Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia (1992)
    Springer
    Journal of molecular medicine 70 (1992), S. 396-402 
    Details
    ISSN: 1432-1440
    Schlagwort(e): Mitochondrial myopathy ; External ophthalmoplegia ; Kearns-Sayre syndrome ; Endocrine abnormalities
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary Endocrine functions were examined in 21 patients with mitochondrial myopathies presenting with chronic progressive external ophthalmoplegia and other additional neurological and multisystemic symptoms. Ten patients had the features of the Kearns-Sayre syndrome. Deletions of the mitochondrial DNA were found in 4 out of 5 patients examined. Fourteen patients, including 3 with deletions of the mitochondrial DNA, had various and often multiple endocrine abnormalities: 6 patients were of short stature, 3 had irregular menstrual cycles, 3 had undersized testicles, 5 showed an insufficient rise of growth hormone following the administration of growth-hormone-releasing hormone, 4 showed an insufficient rise in FSH after administration of gonadotropin-releasing hormone, 5 had manifest diabetes mellitus, 3 showed an impaired glucose tolerance, and 2 patients had subnormal serum levels of parathormone in combination with hypocalcaemia. One patient additionally had Klinefelter's syndrome with a kariotype 47, XXY and increased levels of FSH and LH, subnormal levels of testosterone and subnormal testicular volume. The occurrence of endocrine defects correlated with the duration of disease. The data demonstrate that endocrine abnormalities are frequently associated with mitochondrial myopathy, indicating that this multisystemic disease also involves various endocrine tissues.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00235520
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  • 7
    Digitale Medien
    Digitale Medien
    Alteration in zonation of succinate dehydrogenase, phosphoenolpyruvate carboxykinase and glucose-6-phosphatase in regenerating rat liver (1984)
    Springer
    Histochemistry and cell biology 80 (1984), S. 97-101 
    Details
    ISSN: 1432-119X
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Parenchymal activities (μmol·min−1·g liver−1) and distributions of mitochondrial succinate dehydrogenase, cytosolic phosphoenolpyruvate carboxykinase and microsomal glucose-6-phosphatase were studied in regenerating rat liver after two thirds partial hepatectomy. 1. Succinate dehydrogenase activity remained constant with a slight and transient increase for a few hours after operation. The typical periportal localization was changed to an almost even distribution from 8 h to 7 days; it was fully restored after 14 days. 2. Phosphoenolpyruvate carboxykinase activity was increased by 1.8 fold 24 h after surgery; it remained enhanced until about 72 h. The normal periportal to perivenous enzyme gradient was diminished or replaced by a homogeneous distribution between 8 h and 7 days; the zonal heterogeneity was regained after 14 days. 3. Glucose-6-phosphatase activity remained constant after partial hepatectomy. The normal periportal maximum was lost between 4 h and 36 h; the activity became more equally distributed and was even shifted towards the perivenous zone. After 48 h the zonal distribution was reestablished. The results indicate that after partial hepatectomy the gluconeogenic capacity of the liver remnant is increased and that this increase is accompanied by a loss of the normal heterogeneity which is typical for the glucostat function of the organ. They reveal in addition that the three enzymes, representing three different subcellular compartments, change their zonal heterogeneity individually rather than synchronously.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00492778
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  • 8
    Digitale Medien
    Digitale Medien
    Multiple, disseminierte Hypodensitäten in der kranialen CT (1997)
    Springer
    Der Radiologe 37 (1997), S. 481-482 
    Details
    ISSN: 1432-2102
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s001170050242
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  • 9
    Digitale Medien
    Digitale Medien
    A specific point mutation in the mitochondrial genome of Caucasians with MELAS (1991)
    Springer
    Human genetics 〈Berlin〉 88 (1991), S. 233-236 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary The mitochondrial DNA (mtDNA) of Japanese patients suffering from the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS) exhibits a specific heteroplasmic A→G transition in the tRNALeu at position 3243. In this study, we investigated mtDNA from skeletal muscle, cardiac muscle, brain, liver, diaphragm, fibroblasts and blood cells of four Caucasians with MELAS, one younger healthy sister of two MELAS patients, and eleven controls. We found that 1) the mutation was present in all investigated tissues of Caucasians with MELAS but not in controls, 2) within a single patient, the tissue-specific variation of the copy number of mutated mtDNA covered the same range as in the skeletal muscle of different patients, 3) the mutation was also present in the blood cells of the healthy sister of two MELAS siblings.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00206080
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  • 10
    Digitale Medien
    Digitale Medien
    Inclusion body myositis : clinical and histopathological features of 36 patients (1993)
    Springer
    Journal of molecular medicine 71 (1993), S. 351-361 
    Details
    ISSN: 1432-1440
    Schlagwort(e): Inflammatory myopathies ; Inclusion body myositis ; Rimmed vacuoles
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary Thirty-six patients (15 females, 21 males) with inclusion body myositis (IBM) were studied. The diagnosis was established according to clinical and histopathological criteria. Clinical features were insidious onset of slowly progressive muscle weakness and wasting with depressed or absent tendon reflexes especially in the lower limbs. The pattern of muscle weakness was variable. The majority of patients (58%) showed proximal and symmetrical weakness usually most prominent in the legs. Isolated distal (6%) and asymmetrical weakness (19%) was less frequently observed. Myalgia occurred in 42% of the patients. The age at onset of symptoms ranged from 20 to 73 years (mean 47 years). Serum creatine kinase levels were normal (11%) or mildly elevated (89%). Needle electromyography revealed myopathic features in about 80% of the patients, and results of nerve conduction studies were normal in most of the cases. The predominant histopathological findings were numerous muscle fibers with rimmed vacuoles (100% of the patients), groups of atrophic fibers (92%), and inflammatory infiltrates (89%). The inflammatory infiltrates were located predominantly at endomysial sites and were composed mainly of T8 cells. Electron microscopy showed characteristic intracytoplasmic filamentous inclusions in all 36 cases. Immunosuppressive treatment in 16 patients failed to prevent disease progression in all but one patient with an associated Sjögren's syndrome. It is concluded that the consistent combination of typical histopathological findings and characteristic clinical features offers a firm basis for the diagnosis of IBM. IBM should be suspected in any adult patient presenting with clinical signs of a chronic polymyositis unresponsive to immunosuppressive therapy. The etiology and pathogenesis of IBM remain to be established.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00186623
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