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G Cordone

Publications and source records attributed to G Cordone.

At least 19 recordsLinked to original sources
PubMed2000

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.

Amino Acid Sequence↗
PubMed2000

Quantitative flow cytometric analysis of the effects of cetirizine on the expression of ICAM-1/CD54 on primary cultured nasal cells.

An in vitro flow cytometric model has been developed to evaluate the effects of antiallergic drugs such as cetirizine (CTZ) on the expression of surface molecules on primary cultured normal cells. Quantitative analysis demonstrated that HLA class I and ICAM-1/CD54 molecules are present on both epithelial and stromal cells, and that their expression is strongly enhanced by treatment with interferon-gamma (IFN-gamma). Nevertheless, the IFN-gamma-mediated upregulation of ICAM-1/CD54 was inhibited by treatment with CTZ, demonstrating a direct effect on both cell types. This finding is particularly interesting because ICAM-1/CD54 is the main rhinovirus receptor, and rhinoviruses are the principal cause of asthma exacerbation in children. Thus, according to data derived from this in vitro model, CTZ should have an important role in the reduction of infectious exacerbation of asthma in atopic patients.

Adult↗
PubMed1999

Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy.

Caveolae are small pockets or invaginations localized at the plasma membrane. Caveolins are the principal protein components of caveolae and play an important structural role in the formation of caveolae membranes. Here, we studied by freeze fracture and immunological techniques the spatial organization of caveolae at the muscle cell plasma membrane and the expression of caveolin-3 in Duchenne muscular dystrophy (DMD) muscle fibers. In DMD muscle, we found an increased number of caveolae at the sarcolemma that corresponds to an overexpression of caveolin-3 by immunohistochemistry and by Western blot analysis. These findings suggest a possible role for caveolae and caveolin-3 in the pathogenesis of DMD.

Adolescent↗
PubMed1999

[Mid-latency auditory evoked responses in Alzheimer's disease: evaluation of P1 and P3 waves].

A great deal of research has revealed a frequent association between hearing impairment and Alzheimer's disease. Many of these studies have, however, been criticized for the lack of statistical significance, for the methodology used and for doubts regarding the diagnostic criteria used. The lack of uniform results prompted the present research. On the basis of some works in the literature, the authors felt that the study of middle and long-latency auditory evoked potentials, and their expression characterized by the P1 and P3 waves, the appropriate instrument for exploring the cortical and subcortical tracts of the auditory system which are most compromised in Alzheimer's disease. In fact, numerous studies have suggested that wave P1 is generated by peduncle-pontine nucleus cells of the tegmentum and that wave P3 is generated by sites located in the temporal lobes and hippocampus. The present study was conducted on 15 subjects suffering from Alzheimer's disease and 15 controls. Four subjects were excluded from the study because they were affected by Alzheimer's disease with severe dementia and were, thus, unable to cooperate. The 15 controls underwent accurate clinical and instrumental evaluation to rule out any neurological and intellectual disorders. The results for wave P1 show a statistically significant difference between the subjects affected by Alzheimer's disease and the controls. In fact, there was a difference in the presence of this potential. Moreover there was a statistically significant difference in P1 between those patients with average dementia and the controls but not between those with slight dementia and the controls. Finally, comparison of the abnormalities in P1 potential and P3 latency showed that in Alzheimer's disease alterations in P3 arise earlier and are more constant than alterations in P1. The physiopathological meaning of these results is discussed.

Aged↗
PubMed1998

Disorganization of dystrophin costameric lattice in Becker muscular dystrophy.

We studied by high-resolution immunofluorescence (HRI) and by confocal laser scanning optical microscopy (CLSOM) the costameric organization of dystrophin and vinculin at the surface membrane of muscle fibers from 4 young boys with Becker muscular dystrophy (BMD). By HRI, the surface membrane of normal fibers showed regular parallel bands encircling the fiber at the level of I and M band. In BMD fibers, the dystrophin bands were stretched apart, interrupted, or did not show the intermediate band encircling the M band. By CLSOM, computer reconstruction of muscle surface membrane showed disorganization of the costameric dystrophin lattice at the membrane level in BMD muscle, in contrast with the preservation of the costameric lattice organization of vinculin.

Child↗
PubMed1998

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.

A 9-year-old boy had recurrent episodes of myoglobinuria and normal urinary organic acid profile. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency was detected biochemically in cultured skin fibroblasts and confirmed by Western blot analysis. The patient had a distinctive plasma fatty-acid profile, which was present even between attacks. Early diagnosis of this disorder is important because of the apparently protective effect of an appropriate dietary regimen.

Acyl-CoA Dehydrogenase, Long-Chain↗
PubMed1998

Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.

Mitochondrial disorders can affect any organ system, but certain tissues, such as skeletal muscle, heart, and brain are more susceptible to oxidative phosphorylation defects because of their high energy requirements. Endocrinological manifestations, especially diabetes mellitus, are common but they rarely dominate the clinical picture. We describe a 5-year-old girl who died of primary adrenal insufficiency with a mitochondrial disease. Biochemical studies in muscle showed decreased respiratory chain enzyme activities. We detected a novel 7.0 kb mtDNA deletion in muscle form the proband, but not in her mother's white blood cells. Our findings further enlarge the spectrum of clinical presentation associated with mitochondrial DNA deletions.

Adrenal Insufficiency↗
PubMed1998

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies, including autosomal dominant and recessive forms. To date, two autosomal dominant forms have been recognized: LGMD1A, linked to chromosome 5q, and LGMD1B, associated with cardiac defects and linked to chromosome 1q11-21. Here we describe eight patients from two different families with a new form of autosomal dominant LGMD, which we propose to call LGMD1C, associated with a severe deficiency of caveolin-3 in muscle fibres. Caveolin-3 (or M-caveolin) is the muscle-specific form of the caveolin protein family, which also includes caveolin-1 and -2. Caveolins are the principal protein components of caveolae (50-100 nm invaginations found in most cell types) which represent appendages or sub-compartments of plasma membranes. We localized the human caveolin-3 gene (CAV3) to chromosome 3p25 and identified two mutations in the gene: a missense mutation in the membrane-spanning region and a micro-deletion in the scaffolding domain. These mutations may interfere with caveolin-3 oligomerization and disrupt caveolae formation at the muscle cell plasma membrane.

Adolescent↗
PubMed1998

Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.

A 14-year-old boy with exercise-related myalgia and cramps had several episodes of myoglobinuria since early childhood. An episode at 2 years of age caused acute renal failure. Histochemical and biochemical analysis of muscle showed a combined defect of phosphofructokinase (PFK) and adenosine monophosphate (AMP) deaminase. DNA analysis showed that the patient was homozygous for a G-to-C substitution at codon 39 of the PFK gene (previously described in an Italian patient) and for the common mutation found in AMP deaminase deficiency.

AMP Deaminase↗
PubMed1996

Severe dystrophinopathy in a patient with congenital hypotonia.

We studied a 2-year-old child with congenital hypotonia and proximal muscle weakness. There was no family history of neuromuscular disease. The child also had hypospadia. The central nervous system was apparently not involved. Muscle biopsy showed a dystrophic pattern and dystrophin was absent as shown by immunofluorescence and by Western blot. Vinculin and spectrin were also reduced, while merosin was normal in muscle fibers. This observation suggests that congenital hypotonia may be associated with a severe form of dystrophinopathy.

Abnormalities, Multiple↗
PubMed1996

Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency.

We studied three new cases of congenital muscular dystrophy (CMD) with homogeneous clinical and laboratory features, represented by congenital muscle hypotonia and weakness, early contractures, elevated serum CK, and dystrophic pattern at muscle biopsy, without clinical impairment of CNS. Merosin, the laminin isoform that contains the alpha 2 heavy chain, was absent in muscle fibers of all the patients by immunohistochemistry and by immunoblot. By electron microscopy, we found a severe disruption of muscle fiber basal lamina, but not of blood vessel basal lamina, which contains the laminin alpha 1 heavy chain isoform. This disruption may play a key role in the degeneration of muscle fibers and in the abnormal proliferation of connective tissue seen in CMD.

Basement Membrane↗
PubMed1995

[Early myoclonic encephalopathy and spinal muscular atrophy type I].

The authors describe the case of a floppy baby with the typical features of early myoclonic encephalopathy, represented by erratic and partial myoclonus of early onset and electroencephalographical suppression-burst pattern. Muscle biopsy made it possible to recognize an important neurogenic pattern, suggesting a severe form of spinal muscular atrophy. The association of these two disorders has never been reported.

Brain↗
PubMed1994

Abnormalities in the expression of beta-spectrin in Duchenne muscular dystrophy.

We studied beta-spectrin using an immunologic probe in muscle samples from patients with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), other disease controls, and normal controls. By immunohistochemistry in DMD samples, beta-spectrin showed reduced or interrupted staining of the entire cell surface or only patches of bright staining at the cell periphery. There were also alterations of beta-spectrin immunostain in fibers that were not degenerating or regenerating. By immunoblotting, the amount of beta-spectrin in muscle was reduced and varied from 52% to 78% of the normal controls. We found normal values of beta-spectrin in BMD and disease controls. These observations indicate that the expression of beta-spectrin in DMD is abnormal and that beta-spectrin immunolabeling is not a good marker for monitoring membrane integrity in DMD muscle.

Adolescent↗
PubMed1994

[Muscle phosphorylase deficiency in childhood. A case report].

Myophosphorylase deficiency or McArdle's disease is rarely recognized in childhood. The onset is generally in adolescence or in adult age with exercise intolerance, muscle cramps and myoglobinuria. Two siblings of 6 and 2 years of age are described. The first patient showed early fatigue and both had elevated CK levels. Morphological and biochemical studies of muscle biopsies revealed a defect of myophosphorylase.

Child↗
PubMed1993

Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria.

Two young boys were referred for evaluation of metabolic myopathy because of elevated serum levels of creatine kinase, cramps and pigmenturia. Immunohistochemical studies of dystrophin in muscle biopsies showed reduced intensity of the stain with a patchy and discontinuous pattern in most fibers. In both patients dystrophin was undetectable by immunoblotting. DNA analysis of the dystrophin gene was not informative in one patient; in the other it revealed an in-frame deletion comprising exons 3-6. These observations suggest that the two patients are affected with an unusual phenotype of Becker muscular dystrophy. Dystrophin analysis should be included in the evaluation of patients with childhood-onset of recurrent myoglobinuria.

Child↗