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Biomedical subjects

G Romeo

Publications and source records attributed to G Romeo.

At least 235 records · Page 13Linked to original sources
PubMed1989

Interferons in cell growth and development.

Interferons (IFNs), besides inducing an antiviral state in uninfected cells, are also natural regulatory molecules. They play a key role in the regulation both of cell growth and differentiation, and of development. Up- or down-regulation of oncogenes by IFNs may be one of the mechanisms by which these molecules affect cell physiology. The list of IFN-inducible proteins continues to grow rapidly and future research should identify among these the mediators of the biological effects of IFNs.

Animals↗
PubMed1989

A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus.

Linkage analysis of five marker loci in and around the Duchenne muscular dystrophy (DMD) locus, DXS84, DXS206, DXS164, DXS270, and DXS28, was conducted with 499 families. Overall, the best multipoint distances were found to be DXS84-3.7 +/- 0.6 cM-DXS206-1.0 +/- 0.4 cM-DXS164-1.9 +/- 0.6 cM-DXS270-12.0 +/- 1.1 cM-DXS28. A comparison of this linkage map with the established physical map suggests the presence of hot spots for recombination in the DMD locus.

Chromosome Deletion↗
PubMed1989

Studies on the mechanism of the interferon-mediated antiviral state to vesicular stomatitis virus in resting mouse peritoneal macrophages.

We have analysed the expression of vesicular stomatitis virus (VSV) proteins in virus-infected freshly explanted mouse peritoneal macrophages (resistant to virus replication), macrophages aged in vitro (permissive for virus replication) and freshly explanted macrophages from mice treated with antibody to interferon (IFN) alpha/beta (permissive for VSV replication). Our data showed that some VSV proteins (i.e. N/NS and G) were synthesized in virus-infected (1 p.f.u/cell) freshly harvested macrophages at early times after infection (3 to 6 h); the expression of such viral proteins was subsequently inhibited at 18 h post-infection. In contrast, a progressive increase in the expression of VSV proteins was observed in the macrophages aged in vitro and infected with VSV at 1 p.f.u./cell. Infection with a higher m.o.i. (16 p.f.u./cell) resulted in similar viral protein electrophoresis patterns for both aged macrophages and freshly explanted macrophages. Even at low m.o.i. a marked and progressive expression of all VSV proteins was observed in freshly harvested macrophages from mice treated with antibody to mouse IFN-alpha/beta. Higher levels of oligo-2',5'-adenylate synthetase (2-5AS) were found in freshly harvested macrophages than in either aged macrophages or those from mice treated with antibody to IFN. No dsRNA-dependent 67K protein kinase was detected in freshly harvested macrophages or peritoneal cells from untreated mice or mice treated with poly(rI).poly(rC) or Newcastle disease virus. The following conclusions can be drawn from these results. Low levels of spontaneous IFN-alpha/beta are responsible for the time-dependent inhibition of VSV protein synthesis in virus-infected freshly harvested macrophages; high levels of 2-5AS (in the absence of detectable levels of 67K protein kinase) appear to correlate with the progressive inhibition of VSV proteins; this natural antiviral state is highly effective only at low m.o.i.

2',5'-Oligoadenylate Synthetase↗
PubMed1989

Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq.

Several DNA sequences from two homologous regions, localized on the distal part of the human X chromosome short arm and on the long arm of the Y chromosome, have been hybridized to DNAs from seven human-rodent hybrids containing human X; Y translocation chromosomes. Molecular characterization of the translocated chromosomes has revealed, in all but one case, transfer of the Y cluster of sequences and complete deletion of the corresponding X-chromosomal sequences. The possible role of X/Y homology in the aetiology of X; Y translocations is proposed.

Cell Line↗
PubMed1989

The gene coding for proteins HC and HI-30 of inter-alpha-trypsin inhibitor maps to 9q22.3----q33.

Proteins HC and HI-30 of inter-alpha-trypsin inhibitor light chain are two plasma proteins. They are encoded by the same monocistronic mRNA. Their function is probably related to the regulation of immunologic and/or inflammatory responses. Using a genomic DNA probe and a panel of somatic cell hybrids we have mapped the gene coding for the proteins to chromosome 9. In situ hybridization experiments refined the assignment to the region 9q22.3----q33.

Alpha-Globulins↗
PubMed1989

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

About 60% of both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) is due to deletions of the dystrophin gene. For cases with a deletion mutation, the "reading frame" hypothesis predicts that BMD patients produce a semifunctional, internally deleted dystrophin protein, whereas DMD patients produce a severely truncated protein that would be unstable. To test the validity of this theory, we analyzed 258 independent deletions at the DMD/BMD locus. The correlation between phenotype and type of deletion mutation is in agreement with the "reading frame" theory in 92% of cases and is of diagnostic and prognostic significance. The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features.

Adolescent↗
PubMed1989

Applications of tissucol in larynx, trachea and neck surgery.

Tissucol (human fibrin seal) has an adhesive as well as a haemostatic effect on tissues. It has been used in larynx surgery favouring adhesion between cartilages, mucosae and muscles. The use of Tissucol has particularly been successful in: 1) bilateral cordectomy as, besides avoiding the temporary application of a silactic sheet to matain an open glottic chink, it also prevented webbing. 2) Authors also underline the advantages of applying Tissucol by the "duploject" device for closure of pharyngeal fistulae and by the "Spray-set" device for large pharyngo-oesophageal surfaces and neck fascia.

Fibrin Tissue Adhesive↗
PubMed1989

Synthesis and pharmacological activity of imidazolyn-5-ones.

A new series of imidazolyn-5-one derivatives were synthesized. These compounds were screened for their analgesic, anti-inflammatory and antipyretic activities, as well as for their ulcerogenic potential, for behavioural effects and acute toxicity. Some of them showed higher analgesic activity than phenylbutazone (PBZ), but lower anti-inflammatory activity. Their ulcerogenic effect was lesser than that of the reference drug.

Animals↗
PubMed1988

A second genetic locus for autosomal dominant polycystic kidney disease.

Hitherto, mutations that lead to autosomal dominant adult-type polycystic kidney disease have been found to be linked to the alpha-globin genes on the short arm of chromosome 16. In an Italian family, absence of linkage between the disease mutation and alpha-globin indicates that the condition can be caused by mutations in a second gene. The clinical features of the disease in this Italian family are indistinguishable from those found in the "linked" families. The finding that there are two polycystic kidney disease genes means that linkage must be demonstrated independently in each family before predictive tests with DNA probes can be used reliably.

Adult↗
PubMed1988

Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin.

As part of an epidemiological study that aims to characterize chemically the mutation(s) in transthyretin (TTR) related to familial amyloidotic polyneuropathy (FAP) of different ethnic origins, studies were carried out on TTR from two FAP kindreds of Italian origin. Two different criteria were employed in the characterization of TTR from these kindreds: (1) immunoblotting of cyanogen bromide fragments for screening of TTR(Met30) and (2) isoelectric focusing. TTR(Met30) was not detected but other substitutions were demonstrated using isoelectric focusing techniques. One of the variants found is a basic TTR variant. The substitutions occurring in the variant TTRs of these two kindreds are not known and are presently under study.

Amyloidosis↗
PubMed1988

Assignment of human coagulation factor XII (fXII) to chromosome 5 by cDNA hybridization to DNA from somatic cell hybrids.

Human coagulation factor XII (fXII), a serine protease synthesized in liver and active in plasma, is involved in a wide variety of functions, including blood coagulation, fibrinolysis, bradykinin and complement activation. A complementary DNA (597 bp) encoding amino acid -16 to amino acid 183 of fXII protein was used to determine the chromosomal location of the fXII gene. DNAs from hamster-human somatic cell hybrids were digested with restriction enzymes and hybridized with the fXII cDNA. By the Southern method it was shown that restriction fragments able to hybridize to fXII cDNA are present only in DNA extracted from clones retaining human chromosome 5.

Animals↗
PubMed1988

Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees.

Two unrelated pedigrees, which show recurrence of Emery-Dreifuss muscular dystrophy (EDMD) in three generations, have been studied using 13 X-linked DNA polymorphisms and somatic cell hybrids to establish the phase of the corresponding alleles in some obligate carriers. The reconstruction of cross-over points on the X chromosomes carrying the EDMD gene excludes from mapping most regions of the X chromosome except for the terminal portion of Xq. Pooled linkage data from the two pedigrees confirm the linkage previously reported with locus DXS15. A cross-over in a carrier female suggests that the EDMD gene is probably located distally to DXS15. In addition the recombinant meioses from one of the two pedigrees suggest the following order for some Xq polymorphic loci: DXS1 (DXYS1-DXS178) DXS42 (F9-DXS15).

Chromosome Mapping↗
PubMed1988

Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies.

The indirect approach to carrier detection and prenatal diagnosis of Duchenne and Becker muscular dystrophies based on the study of DNA polymorphisms closely linked to this gene has been followed by five Italian laboratories in the study of 106 pedigrees. Out of 354 women studied up to 1 May 1987, 147 were identified as carriers because of pedigree information and/or of increased creatine phosphokinase (CPK) values. Of the remaining 207, 184 could be assigned to three arbitrarily defined risk categories (low, intermediate and high) using linkage analysis. This disaggregation of women at risk is clearly more useful than that defined before DNA analysis, in which the same 184 women could be assigned only to the low or intermediate risk categories. Prenatal diagnosis was theoretically possible in 90% of carrier women, and was actually performed in 14 pregnancies, which led to the identification of four affected male foetuses, one also having Down syndrome.

Chromosome Deletion↗
PubMed1988

IFN-gamma facilitates NGF-induced neuronal differentiation in PC12 cells.

Natural or recombinant murine interferon-gamma causes a reversible arrest of proliferation of PC12 cells. Treatment with other antimitotics (AraC, colchicine, mitomycin C, hydroxyurea) or removal of serum, on the contrary, leads to mitotic arrest followed by cell death. IFN-gamma-treated PC12 cells respond more rapidly to NGF in terms of speed of neuronal outgrowth. On the other hand, NGF potentiates the action of IFN-gamma in stimulating the enzyme 2',5'-A synthetase which shifts from an average of 4.4-fold stimulation at 48 h with IFN-gamma alone to increments varying between 5- and 18-fold when PC12 cells are treated for 48 h with IFN-gamma and NGF. NGF alone, on the contrary, does not exert any detectable effect on this enzyme. From the findings we propose the use of a combined treatment of PC12 cells with NGF and IFN-gamma for a more rapid induction of neuronal differentiation.

Adrenal Gland Neoplasms↗
PubMed1988

Opposite effects of murine interferons on erythroid differentiation of Friend cells.

Interferons (IFNs), in addition to inducing an antiviral state in uninfected cells, are able to affect cell physiology, including cell differentiation. In this respect hematopoiesis is certainly the area in which most data have accumulated. In general IFN-alpha or -beta inhibit cell growth of normal progenitors of hematopoietic lineages. In leukemia cell cultures IFNs may either stimulate or inhibit cell growth and differentiation. We report here different biological effects of murine (mu) IFN-alpha 1, -beta, and -gamma species on the erythroid differentiation of dimethyl sulfoxide (DMSO)-induced Friend leukemia cells. Treatment with mu recombinant IFN-beta enhances DMSO-induced FLC differentiation, whereas treatment with IFN-alpha 1 species as well as with natural and recombinant mu IFN-gamma preparations only inhibits it. All these observed effects are neutralized by monoclonal antibodies against IFN-alpha, -beta, and -gamma species. When mu fibroblast IFN (a mixture of alpha and beta species) was used, the inhibitory effect attributable to IFN-alpha was partly overshadowed by the simultaneous presence of a majority of IFN-beta molecules exerting the opposite effect. This is in agreement with data obtained neutralizing fibroblast IFN preparations with excess amounts of monoclonal antibodies against IFN-beta (G.B. Rossi et al., 1988, "The Status of Differentiation Therapy of Cancer," Raven Press, New York) and with our previous reports indicating that mu fibroblast IFN can either enhance or inhibit DMSO-induced differentiation when administered at low (less than 500 U/ml) or high (greater than 5000 U/ml) doses, respectively. The inhibitory effect of IFN-alpha 1 on cell differentiation is not linked to any inhibitory effect on cell growth. Results obtained analyzing the effect of IFN-alpha 1 and -beta on various IFN-resistant FLC clones indicate that different mechanisms underlie the stimulatory effect of IFN-beta and the inhibitory effect of IFN-alpha 1. These results shed light on possibly distinct physiological roles of the various species of IFNs.

2',5'-Oligoadenylate Synthetase↗
PubMed1988

Partial digestion with restriction enzymes of ultraviolet-irradiated human genomic DNA: a method for identifying restriction site polymorphisms.

A method for partial digestion of total human DNA with restriction enzymes has been developed on the basis of a principle already utilized by P.A. Whittaker and E. Southern (1986, Gene 41: 129-134) for the analysis of phage lambda recombinants. Total human DNA irradiated with uv light of 254 nm is partially digested by restriction enzymes that recognize sequences containing adjacent thymidines because of TT dimer formation. The products resulting from partial digestion of specific genomic regions are detected in Southern blots by genomic-unique DNA probes with high reproducibility. This procedure is rapid and simple to perform because the same conditions of uv irradiation are used for different enzymes and probes. It is shown that restriction site polymorphisms occurring in the genomic regions analyzed are recognized by the "allelic" partial digest patterns they determine.

DNA↗