Search NEL Online

Journal Article 2008; 29(5): 653-657 PubMed PMID: 18987576 Citation  Keywords:  Adenomatous Polyposis Coli:epidemiology, Adenomatous Polyposis Coli Protein:genetics, Chromatography, High Pressure Liquid, DNA:biosynthesis, Gene Deletion, Mutation, Polymorphism, Single-Stranded Conformational:genetics, Reverse Transcriptase Polymerase .   

OBJECTIVES: The adenomatous polyposis coli (APC) gene was analyzed for germline mutations in 113 familial adenomatous polyposis suspected families from all over Slovakia. Mutation screening was performed using single strand conformation polymorphism (SSCP) and DNA sequencing.

RESULTS: Mutations in the APC gene were found in 39 (34.5%) Slovak families and 25 different pathogenic mutations throughout the APC gene were identified. Of these, 12 mutations were deletion, one was insertion and 12 were base substitution.

CONCLUSIONS: Molecular diagnostics of Slovak FAP families revealed broad palette of mutations in crucial APC gene. The patients with identified APC gene mutations were assigned to a specific therapeutic FAP program....

Read abstract  Full text PDF

Journal Article 2006; 27(3): 345-349 PubMed PMID: 16816835 Citation  Keywords:  Aged, Aged, 80 and over, Female, Humans, Immunohistochemistry, Male, Middle Aged, RNA, Messenger:analysis, Receptor, Endothelin A:genetics, Receptor, Endothelin B:genetics, Reference Values, Reverse Transcriptase Polymerase Chain Reaction, Tissue Distribu.   

OBJECTIVES: Endothelin is a potent peptide mediator that is synthesized by a number of cells. Previous studies have revealed the occurrence of endothelin in nerve cell bodies of some peripheral ganglia. Endothelin mediates its effects via two distinct receptor subtypes ETA and ETB. The present study was designed to investigate the presence of these two receptors in the human trigeminal ganglion.

METHODS: Reverse transcriptase-polymerase chain reaction (RT-PCR) was used to show the presence of mRNA encoding ETA and ETB receptors in the human trigeminal ganglion. To localize the protein immunocytochemistry with antibodies against the endothelin receptors was used.

RESULTS: Reverse transcriptase-polymerase chain reaction (RT-PCR) analysis revealed mRNA for both receptor subtypes in the human trigeminal ganglion. Immunocytochemistry revealed numerous cell bodies containing the ETA and the ETB receptor proteins.

CONCLUSIONS: The expression of ETA and ETB receptors in the human trigeminal ganglion suggests a role for endothelin in autonomic and sensory neural transmission....

Read abstract  Full text PDF

Journal Article 2005; 26(5): 521-525 PubMed PMID: 16264407 Citation  Keywords:  Adult, Aged, Aging:physiology, Carcinoma, Papillary:genetics, Chromosomes:genetics, Genetic Markers, Humans, Loss of Heterozygosity:genetics, Microsatellite Repeats, Middle Aged, Protein-Tyrosine Kinases:genetics, RNA, Messenger:biosynthesis, Reverse Tran.   

OBJECTIVES: The aim of the study was to establish the LOH frequency of selected polymorphic markers in different histological types of thyroid tumors: 18 colloid goiters (CG), five follicular adenomas (FA), nine follicular carcinomas (FTC), 40 papillary carcinomas (PTC), and one anaplastic carcinoma (ATC). For PTC, tumors negative for RET/PTC rearrangements were preferred.

METHODS: LOH studies were performed using 14 highly polymorphic markers previously described as frequently lost in thyroid tumors.

RESULTS: In 20 cases (27%) the loss of at least one marker was found. No difference between the frequency of the LOH in FTC and PTC tumors was revealed (33% v. 33%). No differences between histopathological subtypes of PTC in LOH were found. Papillary thyroid carcinomas showed a tendency to higher LOH frequency from patients older than 45 years of age compared to younger ones (9/23 v. 4/17) although it was not statistically significant.

CONCLUSIONS: We conclude that papillary thyroid cancers, particularly those diagnosed in patients older than 45 years of age, do exhibit LOH at least with the same frequency as follicular cancers. This increased number of LOH events may contribute to the clinical aggressiveness of cancer in older patients....

Read abstract  Full text PDF

Journal Article 2003; 24(1-2): 68-72 PubMed PMID: 12743536 Citation  Keywords:  Animals, Bivalvia:metabolism, Cold Temperature:adverse effects, Down-Regulation, Ganglia, Invertebrate:metabolism, Nitric Oxide:biosynthesis, RNA:analysis, Receptors, Opioid, mu:biosynthesis, Reverse Transcriptase Polymerase Chain Reaction, Stress, Physio.   

OBJECTIVES: Subjecting the marine bivalve Mytilus edulis to an immediate temperature change has been shown to rapidly alter the animals' ganglionic monoamine levels, as well as its ciliary activity. Recently, we extended this observation to include the organism's ganglionic mu opiate receptor and morphine levels. In the past, we demonstrated that M. edulis ganglionic mu receptors exposed to morphine was coupled to the immediate release nitric oxide (NO). In this study, we measured morphine-induced NO release in M. edulis subjected to acute cold stress.

METHODS: NO release was monitored with an NO-selective microprobe. Temporal changes in mu opiate receptor expression were also examined over 24 hours.

RESULTS: In this study, we demonstrate that after 12h cold exposure (4 degrees C from 24 degrees C), the estimated relative mu opiate receptor (MOR) gene expression in M. edulis pedal ganglia, measured by real-time PCR, did not differ significantly from the control group (1.23+/-0.25, p>0.05). However, the measured M. edulis pedal ganglia MOR expression demonstrated that ganglia significantly (0.77+/-0.05, p<0.001) down regulated their mu opiate receptor mRNA expression after 24h exposure to the cold water. The mean value for control animal (24 degrees C, n=14) morphine-stimulated NO release was 36.7 +/- 9.8 nM. Morphine additions to cold-treated tissues (4 degrees C, n=7) produced an average of 6.7 +/- 4.9 nM NO, which was a statistically significant difference between 25 degrees C and 4 degrees C animals (p=0.025).

CONCLUSION: The study further demonstrates that mu opiate receptor expression is coupled to NO release....

Read abstract  Full text PDF