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Biomedical subjects

M Moggio

Publications and source records attributed to M Moggio.

At least 73 records · Page 4Linked to original sources
PubMed1989

Muscle glucose-6-phosphate dehydrogenase deficiency.

Muscle glucose-6-phosphate dehydrogenase (G6PD) deficiency is described in four clinically heterogeneous patients: an athlete who developed myoglobinuria after physical exercise; a 7-year-old, mildly mentally retarded boy, who had episodes of dark urine and high creatine kinase; and two brothers of Sardinian origin, the elder showing moderate exercise intolerance. Histochemical and biochemical studies showed a lack of G6PD activity in muscle biopsy specimens as well as in erythrocytes. G6PD characterization in erythrocytes classified these mutant enzymes as Mediterranean variant in all the patients. The deficiency was confirmed in the patients' myotubes and skin fibroblasts, where residual activity was present. Electrophoretic studies in tissue culture extracts showed that the residual muscle enzyme migrated as a single electrophoretic band like normal human muscle G6PD.

Adolescent↗
PubMed1989

Rapid quantitative immunohistochemical assessment of human peripheral neuropathies using a monoclonal antibody against nerve growth factor receptor.

An analysis of nerve growth factor (NGF) receptor expression and density in human sural nerve biopsies was performed by immunocytochemistry with a murine monoclonal antibody against the human NGF receptor. Quantitative assessment of immunostaining density was made by histospectrophotometry on frozen sections. Although there was enhanced expression of NGF receptor within endoneurium in all patients with clinical neuropathies, expression was highest in nerves with axonal disease, consistent with the proposal that disruption of axon-Schwann cell interactions triggers the re-expression of the NGF receptor. These results with human nerves, together with previous studies with animal models, suggest that NGF and NGF receptor play important roles in the general response to neuronal injury.

Adult↗
PubMed1989

Normal muscle mitochondrial function in Ramsay-Hunt syndrome.

Mitochondrial encephalomyopathies may display clinical features similar to Ramsay-Hunt syndrome (RHS). We studied muscles mitochondrial function in 2 patients with RHS. Histochemical and ultrastructural studies of muscle biopsies and biochemical analysis of muscle mitochondrial enzymes were normal. There is no evidence for a disturbance of muscle mitochondrial function in RHS.

Adult↗
PubMed1989

Cytochrome c oxidase during human fetal development.

Histochemical, biochemical and immunologic analysis of cytochrome c oxidase (COX) in skeletal muscle, heart and kidney during human fetal development was performed. COX histochemical activity was present only in few muscle fibres from the 11th to the 20th week of gestation. At the same developmental stage intrafusal muscle fibres, heart and kidney already showed strong activity. At the 28th week of gestation muscular COX activity was present in about 90% of the fibres. Tissue biochemical analysis confirmed these histochemical findings. Histochemical and biochemical findings compared to the immunocytochemical results and ELISA indicate that COX activity parallels the progressive synthesis of the enzyme in each tissue.

Electron Transport Complex IV↗
PubMed1989

Characterization of SV40-transformed human cells by immunofluorescence and fluorescent in situ hybridization techniques.

We have performed immunofluorescent and fluorescent in situ hybridization studies in order to better clarify the integration of SV40 DNA in human fibroblast cell lines. Most of the cells were T-antigen positive by immunocytochemical studies, while in all the cells we detected the integrated viral DNA by in situ hybridization. Both techniques are easy and useful to perform but the molecular genetic method gives a more specific signal with the possibility of localizing molecular hybrids in the nucleus and in the cytoplasm of the transformed cells.

Antigens, Polyomavirus Transforming↗
PubMed1989

[Mitochondrial encephalomyopathy].

Modern concepts regarding mitochondrial encephalomyopathies (ME) are summarized. Utilizing recent techniques of molecular biology we studied some cases of ME referred to the Institute of Clinical Neurology of Milan University. With these techniques we demonstrated different mitochondrial DNA deletions either in patients' muscle or in culture.

Adolescent↗
PubMed1988

Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10.

We tested the efficacy of coenzyme Q10 (ubidecarenone, CoQ10) therapy in patients with Kearns-Sayre syndrome and other mitochondrial myopathies with chronic progressive external ophthalmoplegia (CPEO). We treated seven patients for 1 year with daily oral administration of 120 mg of CoQ10. Throughout the treatment most of our patients showed a progressive reduction of serum lactate and pyruvate levels following standard muscle exercise and generally improved neurologic functions. The ECG and echocardiogram showed no significant changes in our patients. None of our patients showed any improvement in ptosis and CPEO.

Adolescent↗
PubMed1987

Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues.

We report biochemical, immunological, and morphological findings in a patient with fatal Kearns-Sayre syndrome. Histochemical and biochemical findings from muscle biopsy specimens obtained 7 years apart documented the disease's evolution from a mild mitochondrial disorder affecting a small proportion of muscle fibers to a severe disorder affecting a large proportion of muscle fibers. Cytochrome c oxidase activity in muscle declined profoundly as the disease progressed, although the level of enzyme protein was normal, as shown by immunochemical techniques. Other organs were severely affected by the disease. Examination of postmortem tissue showed spongiosis in the frontal cortex, diffuse loss of Purkinje cells in the cerebellum, liver steatosis, and heart fibrosis with mitochondrial abnormalities. Cytochrome c oxidase activity was only slightly reduced in these organs.

Adult↗
PubMed1987

Electron cytochemical study of the muscle cell surface.

The lectins wheat germ agglutinin and limulus polyphemus were used as cytochemical probes to study the ultrastructural localization of sialic acid at the cell surface of rat muscle fibers. In addition cytochemical studies employing strontium as an electron-dense marker were also carried out to investigate cation binding sites at the muscle cell surface. The results showed binding of the lectins to the glycocalyx, caveolae and the basal lamina of the muscle fibers. These binding sites matched the ones observed in the cytochemical studies using strontium as a marker. Based on these observations we suggest that the glycocalyx, caveolae and the basal lamina of the muscle fiber may be involved in the binding of Ca++ and that significant amounts of Ca++ may be normally present at the muscle cell surface.

Animals↗
PubMed1987

Biochemical and immunologic studies in a case of congenital myopathy with unusual morphologic features.

Mitochondria and myosin were isolated from a muscle biopsy of a 9-year-old boy with an unusual congenital myopathy characterized by type I fiber uniformity, jagged Z-line, and transverse network hypertrophy of mitochondria. Biochemical examination of isolated mitochondria showed that only citrate synthase activity was significantly reduced. Electrophoresis of myosin heavy chains and immunoenzymatic analysis of myosin heavy and light chains with antibodies specific to either fast or slow myosins showed that only the slow-type isoform of myosin was detectable. Indirect immunofluorescence of muscle biopsy showed that all muscle fibers homogeneously expressed only the slow type of myosin.

Child↗
PubMed1987

Peripheral neuropathy in macroglobulinemia: incidence and antigen-specificity of M proteins.

Peripheral neuropathy was found in 12 (46%) of 26 patients with macroglobulinemia. The neuropathy was subclinical in two. Anti-myelin-associated glycoprotein (MAG) activity was found in six (50%) patients with neuropathy. Sural nerve biopsies showed demyelination and IgM deposits on the myelin sheath. In one patient who had no anti-MAG activity, the serum IgM bound to peripheral myelin by indirect immunofluorescence and to several protein bands in peripheral nerve and other tissues by immunoblot. In the other five patients with neuropathy, we found no binding of M proteins to nerve components, but in three patients there were endoneurial IgM deposits in nerve biopsy. Peripheral neuropathy may be related to the antigen-specificity of M proteins.

Adult↗
PubMed1987

Human Schwann cells: cytochemical, ultrastructural and immunological studies in vivo and in vitro.

Cytochemical, ultrastructural and immunological properties of human Schwann cells were studied in normal adult and foetal nerve sections and in tissue cultures. As specific markers for Schwann cells we used S-100 protein and laminin. The presence of Sudan black-positive, Oil Red-O-negative material was found in Schwann cells in vitro. Structural features, examined at E.M. level, are described. This information may be useful in nerve tissue culture studies, a new tool for the investigation of dyschwannian neuropathies.

Cells, Cultured↗