Exonic SNPs at positions 220 (A/G) and 445 (C/T) of the peripheral myelin protein 2 (PMP2).
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Charcot-Marie-Tooth Disease↗
Biomedical subjects
A Mularoni
Publications and source records attributed to A Mularoni.
Alternative exon 3 splicing of the human major protein zero gene in white blood cells and peripheral nerve tissue.
The major protein zero (MPZ) is involved in peripheral myelin folding. Using nested reverse transcription-PCR, we amplified several fragments of MPZ mRNAs in white blood cells and in peripheral nerve tissue. Cloning of PCR products revealed the existence of three alternative splicing patterns: one resulted in the complete loss of exon 3 and two others induced partial skipping of the exon 3 sequence. All three alternative splicing mechanisms produced a frame-shift and created an identical premature stop codon in exon 4. We conclude that the existence of these MPZ RNA transcript variants may be the result of deliberate splicing decisions and may have functional implications in the cell.
Actins↗
Mutation of the repeat number of the HPRTB locus and structure of rare intermediate alleles.
During routine paternity testing a mutation of a paternal allele at the HPRTB locus was observed. The opportunity was taken to analyse this mutation at a molecular level. The repeat sequence is flanked by an imperfect repeat sequence and this region could be involved in the mutation mechanism. For this reason, we also examined the structure of "intermediate" alleles. Sequencing confirmed the insertion of a perfect repeat motif and revealed a deletion of a dinucleotide some 50 nucleotides downstream from the repeat sequence for the intermediate alleles. It is likely that these intermediate alleles are rare biallelic deletion polymorphisms and are probably not involved in the mutation or variation mechanism of this locus.
Alleles↗
A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders that affect the peripheral nervous system. Three loci are known for the autosomal dominant forms of axonal CMT (CMT2), but none have yet been identified for autosomal recessive axonal CMT (ARCMT2). We have studied a large consanguineous Moroccan ARCMT2 family with nine affected sibs. The onset of CMT was in the 2d decade in all affected individuals who presented with a severe motor and sensory neuropathy, with proximal muscle involvement occurring in some patients. After exclusion of known loci for CMT2 and for demyelinating ARCMT2, a genomewide search was performed. Evidence for linkage was found with markers on chromosome 1q. The maximum pairwise LOD score was above the threshold value of 3.00, for markers D1S514, D1S2715, D1S2777, and D1S2721, and it reached 6.10 at the loci D1S2777, D1S2721, and D1S2624, according to multipoint LOD-score analysis. These markers defined a region of homozygosity that placed the gene in a 4.4-cM interval. Moreover, a recombination event detected in an unaffected 48-year-old individual excludes the D1S506 marker, thereby reducing the interval to 1.7 cM. In addition, the P0 gene, an attractive candidate because of both its location on chromosome 1q and its role in myelin structure, was excluded by physical mapping and direct sequencing.
Adolescent↗
Induced astigmatism after near-clear hinge incision.
PURPOSE: To evaluate astigmatism induced by the near-clear hinge incision. SETTING: Casa di Cura Villa Toniolo, Bologna, and Day Hospital Nuova Ricerca, Rimini, Italy. METHODS: The results in 100 eyes having phacoemulsification with a 3.2 or 4.1 mm temporal near-clear hinge incision were evaluated for a maximum of 6 months. Corneal curvature was measured using computerized videokeratography, and surgically induced astigmatism was computed by vector analysis. Surgically induced corneal topographic changes were also evaluated. RESULTS: Mean induced cylinder in the 3.2 mm incision group was 0.4 diopter (D) +/- 0.2 (SD) 6 months after surgery; there was no significant difference in the values at 4 days and 6 months. Mean induced cylinder in the 4.1 mm incision group was similar at 1 and 6 months (0.47 and 0.45 D, respectively). However, it was significantly higher at 4 days (0.56 D). Vector decomposition analysis showed that the with-the-rule component was prevalent and remained constant over 6 months. Topographic analysis showed localized wound-related flattening with minimal central corneal changes. CONCLUSION: The near-clear hinge incision was almost astigmatically neutral and resulted in self-sealing incisions that did not leak.
Astigmatism↗
Competitive RT-PCR to quantify CFTR mRNA in human endometrium.
Because the down-regulation by progesterone of cystic fibrosis transmembrane conductance regulator (CFTR) expression could be a useful specific marker to define the state of implant receptivity in endometrium, a competitive reverse transcription-polymerase chain reaction (RT-PCR) was developed for quantifying the CFTR mRNA concentration in human endometrial samples. A competitor RNA was constructed with the same sequence as the CFTR sequence except for a 20-nucleotide insertion in the middle. The amplified products were separated by polyacrylamide gel electrophoresis. The ratio of CFTR band areas to competitor band areas provided the basis of quantification. Using this competitive RT-PCR, we measured CFTR mRNA in human endometrial samples taken at different periods of the menstrual cycle, in endometriosis, and in hyperplasia. Results show that the method is suitable for measuring the concentration of CFTR mRNA.
Binding, Competitive↗
Down-regulation by progesterone of CFTR expression in endometrial epithelial cells: a study by competitive RT-PCR.
To determine the effect of progesterone on the CFTR mRNA level in glandular epithelial cells of guinea-pig endometrium, a competitive RT-PCR was developed using an an internal standard a competitor with the same sequence as CFTR RNA except for a 20 nucleotide insertion. Using this method, the results showed that the CFTR mRNA level decreased in cells treated with estradiol plus progesterone compared to cells receiving estradiol alone. The decrease in CFTR mRNA level was maximal at 12 h incubation and was 27.3% of the CFTR mRNA level in estradiol-treated cells. The effect of progesterone was mimicked by the progestagen, R5020 and was inhibited by antiprogestins, RU 38,486 and ZK 98,299. Results are discussed in relation to the changes taking place in the endometrium in preparation for implantation of the embryo.
Animals↗
Adenosine 3',5'-monophosphate mediates progesterone effect on sulfate uptake in endometrial epithelial cells.
We have previously shown that progesterone increased sulfate uptake in glandular epithelial cells of guinea pig endometrium. To investigate whether cAMP might be the cause of the progesterone effect on sulfate uptake, cAMP accumulation and the effect of cAMP on sulfate uptake were evaluated in cells treated with 17 beta-estradiol alone or with progesterone. Progesterone provoked an increase in the intracellular cAMP accumulation in cells treated with 17 beta-estradiol. Moreover, cAMP or forskolin elicited the same marked increase in sulfate uptake as that observed with progesterone. The effect of progesterone on sulfate uptake was abolished by blocking either the cAMP pathway or the genomic action of progesterone and was independent of the cAMP-activatable apical chloride channel. This study is the first evidence of cAMP activation of sulfate uptake and suggests a genomic effect of progesterone on the production of cAMP which activates the sulfate transport system in a short term activation and a long term activation independent of transcriptional or translational events. The endometrium is a unique tissue that undergoes profound highly regulated modifications during the secretory phase in providing a suitable environment for embryo implantation. The regulation of sulfate uptake could participate in this process.
Animals↗
Effect of progesterone on proteins vectorially secreted by glandular epithelial cells of guinea-pig endometrium: modulation by homologous stroma.
Endometrial glandular epithelial cells were subcultured on matrix-coated filters in bicameral chambers in a serum-free chemically defined medium. The cells were untreated or treated with 50 nmol progesterone l-1 or 10 nmol oestradiol l-1 or 10 nmol oestradiol l-1 plus 50 nmol progesterone l-1 and the proteins secreted into the basal or apical compartment were analysed after [35S]methionine labelling. Compared with the untreated cells, oestradiol treatment did not affect the electrophoretic profiles of proteins secreted by the glandular epithelial cells in either compartment. Progesterone treatment induced a decrease in the labelling of 88 and 53 kDa proteins secreted in the apical and basal compartments and an increase in the labelling of a 28 kDa protein. Moreover, progesterone specifically induced the apical secretion of a 137 kDa protein. Interaction between the epithelial and stromal cells was also investigated. When stromal cells were cultured in the basal compartment under the epithelial monolayer, the progesterone effect on the apical secretion of the 137 kDa protein and basal secretion of the 88 and 28 kDa proteins were altered, whereas this progesterone effect was not altered when the epithelial cells were cultured alone in media conditioned with stromal cells. Interactions between epithelial and stromal cells modified the effect of progesterone on protein secretion by the epithelial cells.
Animals↗
Progesterone stimulates sulfate uptake in subcultured endometrial epithelial cells.
The effect of progesterone was studied on the sulfate entry in glandular epithelial cells of guinea-pig endometrium subcultured in bicameral chambers on matrix-coated filters in a chemically defined medium. At post-confluency (8 days of subculture), cells were treated with 10 nM estradiol alone or in association with various concentrations of progesterone. Optimal progesterone action was at a 16 h incubation time and a 10 nM hormonal concentration. Progesterone increased in a dose-dependent fashion the sulfate uptake specifically in glandular epithelial cells, preferentially from the basal surface. Progesterone effect on the sulfate uptake occurred only in estradiol-primed epithelial cells and was inhibited by the antiprogestin steroid RU-486. The progesterone-dependent increase in sulfate uptake was inhibited by the inhibitor of anion exchange, 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid (DIDS). At physiological sulfate concentrations, progesterone essentially induces a high-affinity DIDS-sensitive transport system.
4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid↗
Progesterone control of fibronectin secretion in guinea pig endometrium.
Immunohistochemistry with a polyclonal antibody raised against human plasma fibronectin (Fn) was used to determine the localization of Fn in endometrial sections of guinea pig uteri isolated at the first, fourth, sixth, or tenth day of the estrous cycle. Immunoreactive Fn was constantly visualized in the endometrial stroma but absent from the epithelial layer. Fn was detected in the uterine lumen on the first or fourth day of the estrous cycle and was absent from the other sections. To determine the origin of this luminal Fn the ability of subcultured endometrial cells to produce Fn was tested, and the hormonal regulation of Fn secretion was studied. Cells were treated by estradiol alone or in association with progesterone, progesterone alone, or untreated. Whatever the hormonal treatment, stromal cells constantly secreted immunoreactive Fn into the culture medium. In the same way, the amount of Fn synthesized and basally secreted by epithelial cells was not affected by any hormonal treatments. However, Fn was found in the apical secretions of the untreated or estradiol-treated epithelial cells but was undetectable in the apical compartment when the epithelial cells were treated by progesterone alone or in association with estradiol. These results indicate that Fn is constitutively secreted by stromal cells and that subcultured epithelial cells of guinea pig endometrium secrete Fn from both their basal and apical membrane domains. However, the apical secretion of Fn is specifically suppressed by progesterone.
Animals↗
Neuroophthalmological implications of the radiological finding of the transverse sinus.
Visualization of transverse intracranial sinuses by means of standard radiograms of the skill is a rather unusual finding. In order to detect the radiological evidence of this important intracranial venous collector, the authors examined 5.638 radiograms, collected since January 1982 until December 1986 at the Neuroradiological Ophtalmic Centre of the University of Bologna. 87 cases (1.54%) resulted positive, with a prevalence of young (mean age 23 years) and female (88%) patients. Among these, an involvement of the optic nerve was the most consistent finding. In fact, it was observed in 47 cases (54%) suffering from: retrobulbar optic neuritis (25 cases), papillitis (13 cases), optic disk edema (6 cases), optic chiasma syndrome (2 cases) and stasis papilla (1 case). Moreover, the report of headache in 20 further cases may have significative implications with respect to the pathogenetic hypothesis about the accentuation of the transverse sinus. Our data suggest that a primitive inflammatory disorder, such as asymptomatic meningitis or meningoencephalitis--early developed in the life--, can induce a persistent local damage also with the radiological alteration. Thus, we presumed that this sign may represent a significant marker of a compromised anatomofunctional condition predisposing to relapsing inflammatory processes. A very interesting possible clinical correlation with demyelinating disorders is also discussed for its pathogenetic implications.
Adult↗
Electrostatic lung deposition experiments with humans and animals.
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Aerosols↗