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7 results on '"Intravaia E"'

4. Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families

Author

Barone, V., Massa, O., Sorrentino, V., Intravaia, E., Bracco, A., Martino, A. Di, Cozzolino, S., and Tegazzin, V.

Abstract

Point mutations in the ryanodine receptor (RYR1) gene are associated with malignant hyperthermia, an autosomal dominant disorder triggered in susceptible people (MHS) by volatile anaesthetics and depolarising skeletal muscle relaxants. To date, 17 missense point mutations have been identified in the human RYR1 gene by screening of the cDNA obtained from muscle biopsies. Here we report single strand conformation polymorphism (SSCP) screening for nine of the most frequent RYR1 mutations using genomic DNA isolated from MHS patients. In addition, the Arg163Cys mutation was analysed by restriction enzyme digestion. We analysed 57 unrelated patients and detected seven of the known RYR1 point mutations. Furthermore, we found a new mutation, Arg2454His, segregating with the MHS phenotype in a large pedigree and a novel amino acid substitution at position 2436 in another patient, indicating a 15.8% frequency of these mutations in Italian patients. A new polymorphic site in intron 16 that causes the substitution of a G at position -7 with a C residue was identified.

Published
1999

5. Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families

Author

Barone, V., Massa, O., Intravaia, E., Bracco, A., Di Martino, A., Tegazzin, V., Cozzolino, S., and Vincenzo Sorrentino

Subjects
Male, Polymorphism, Genetic, Nemaline, Muscles, Single-Stranded Conformational, Ryanodine Receptor Calcium Release Channel, Original Articles, Myopathies, Nemaline, Pedigree, Italy, Genetic, Caffeine, Humans, Point Mutation, Female, genetics, Myopathies, Polymorphism, metabolism, DNA Primers, Female, Halothane, metabolism, Humans, Italy, Male, Malignant Hyperthermia, genetics, Muscles, metabolism, Myopathies, genetics, Pedigree, Point Mutation, Polymorphism, Genetic, Polymorphism, Single-Stranded Conformational, Ryanodine Receptor Calcium Release Channel, Halothane, Malignant Hyperthermia, metabolism, Polymorphism, Single-Stranded Conformational, DNA Primers
Abstract

Point mutations in the ryanodine receptor (RYR1) gene are associated with malignant hyperthermia, an autosomal dominant disorder triggered in susceptible people (MHS) by volatile anaesthetics and depolarising skeletal muscle relaxants. To date, 17 missense point mutations have been identified in the human RYR1 gene by screening of the cDNA obtained from muscle biopsies. Here we report single strand conformation polymorphism (SSCP) screening for nine of the most frequent RYR1 mutations using genomic DNA isolated from MHS patients. In addition, the Arg163Cys mutation was analysed by restriction enzyme digestion. We analysed 57 unrelated patients and detected seven of the known RYR1 point mutations. Furthermore, we found a new mutation, Arg2454His, segregating with the MHS phenotype in a large pedigree and a novel amino acid substitution at position 2436 in another patient, indicating a 15.8% frequency of these mutations in Italian patients. A new polymorphic site in intron 16 that causes the substitution of a G at position -7 with a C residue was identified. Keywords: malignant hyperthermia; central core disease; ryanodine receptor; in vitro contracture test

6. Ca2+ release induced by cyclic ADP ribose in mice lacking type 3 ryanodine receptor.

Author

Fulceri R, Rossi R, Bottinelli R, Conti A, Intravaia E, Galione A, Benedetti A, Sorrentino V, and Reggiani C

Subjects
Animals, Cyclic ADP-Ribose, Mice, Mice, Knockout, Microsomes drug effects, Microsomes metabolism, Muscle Fibers, Skeletal metabolism, Permeability, Ryanodine Receptor Calcium Release Channel deficiency, Ryanodine Receptor Calcium Release Channel genetics, Adenosine Diphosphate Ribose analogs & derivatives, Adenosine Diphosphate Ribose pharmacology, Calcium metabolism, Muscle Fibers, Skeletal drug effects, Ryanodine Receptor Calcium Release Channel metabolism
Abstract

The action of cyclic-ADP-ribose was studied on calcium release from sarcoplasmic reticulum of skeletal muscles of neonatal and adult wild-type and RyR3-deficient mice. cADPR increased calcium efflux from microsomes, enhanced caffeine-induced calcium release, and, in 20% of the tests, triggered calcium release in single muscle fibers. These responses occurred only in the diaphragm of adult RyR3-deficient mice. cADPR action was abolished by ryanodine, ruthenium red, and 8-brome-cADPR. These results strongly favor a specific action of cADPR on RyR1. The responsiveness of RyR1 appears in adult muscles when RyR3 is lacking., (Copyright 2001 Academic Press.)

Published
2001
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7. Activation of respiration and loss of thermodynamic control in hyperthyroidism. Is it due to increased slipping in mitochondrial proton pumps?

Author

Luvisetto S, Schmehl I, Conti E, Intravaia E, and Azzone GF

Subjects
Animals, Biological Transport, Active, Male, Oxygen Consumption, Potassium metabolism, Protons, Rats, Rats, Inbred Strains, Temperature, Thermodynamics, Triiodothyronine pharmacology, Adenosine Triphosphatases metabolism, Hyperthyroidism metabolism, Mitochondria metabolism
Abstract

T3 administration increases the extent of non-linearity in the flow-force relationship between pump proton conductance and protonmotive force. The effect is present also at the ATPase proton pump. These effects are not accompanied by changes in passive proton conductance. Incubation of mitochondria at 45 degrees C also causes an increased non-linearity, accompanied by a partial increase of proton conductance. It appears that the increase of respiratory activity following T3 administration is due to loss of thermodynamic control within or at the proton pumps, an effect which might be attributed to increased slipping.

Published
1991
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