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Biomedical subjects

Marek Sanak

Publications and source records attributed to Marek Sanak.

27 records · Page 2Linked to original sources
PubMed2003

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterized by much less severe disease in girls and women. A "European Community Alport Syndrome Concerted Action" (ECASCA) group was established to delineate the Alport syndrome phenotype in each gender and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X-linked transmission, were collected. Characteristics of heterozygous girls and women belonging to the 195 families with proven COL4A5 mutation are compared with those of hemizygous boys and men. Hematuria was observed in 95% of carriers and consistently absent in the others. Proteinuria, hearing loss, and ocular defects developed in 75%, 28%, and 15%, respectively. The probability of developing end-stage renal disease or deafness before the age of 40 yr was 12% and 10%, respectively, in girls and women versus 90 and 80%, respectively, in boys and men. The risk of progression to end-stage renal disease appears to increase after the age of 60 yr in women. Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot. Risk factors for developing renal failure have been identified: the occurrence and progressive increase in proteinuria, and the development of a hearing defect.

Adolescent↗
PubMed2003

Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida.

We analyzed the role of the C677T polymorphism of the 5,10-methylenetetrahydrofolate and the A66G polymorphism of the methionine synthase reductase genes as risk factors for occurrence of spina bifida. The studied population included 106 mothers and 104 children from affected families, and a control group of 100 adults. We found statistically significant differences between the occurrence of the homozygosity in these polymorphisms in the groups of mothers and children with thoracolumbal defects (C677T polymorphism) and lumbosacral defects (A66G polymorphism). We postulate that these polymorphisms should be regarded as independent risk factors for spina bifida.

Female↗
PubMed2003

[Exacerbation of aspirin-induced asthma associated with RSV infection].

We report the case of a 60 year old woman, suffering for 8 years from aspirin-induced asthma, having an airway infection of RSV-respiratory syncytial virus. New methods of molecular biology were used to identify the virus in the lung bioptate (RT-PCR, reverse transcription polymerase chain reaction and nested PCR). The role of viruses, especially RNA, is still unknown in pathogenesis of asthma. The reported case could help to explain their participation in this disease.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMed2002

Repeated imipramine and electroconvulsive shock increase alpha 1A-adrenoceptor mRNA level in rat prefrontal cortex.

alpha(1)-Adrenoceptors have been implicated in the mechanism of action of antidepressants, but their action on specific receptor subtypes was rarely reported. We compared now the action of two prototypic antidepressant treatments: repeated imipramine and electroconvulsive shock, on the expression of the alpha(1A)- and alpha(1B)-adrenoceptor mRNAs and on the receptor density in rats. The mRNA expression was assessed by Northern blot in the prefrontal cortex and the hippocampus, the receptor density was measured by [3H]prazosin binding in the total cerebral cortex and hippocampus. In the cortex, both treatments elevated the alpha(1A)-adrenoceptor mRNA and the expression of receptor protein. The expression of alpha(1B)-adrenoceptor mRNA remained unaffected. In contrast, in the hippocampus, the antidepressant treatments augmented the density of alpha(1A)-adrenoceptor protein without changing the level of its mRNA expression there. The results suggest that the alpha(1A)-adrenoceptor subtype is specifically involved in the mechanism of action of classical antidepressant treatments.

Animals↗
PubMed2000

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease. Considerable allelic heterogeneity has been observed. A "European Community Alport Syndrome Concerted Action" has been established to delineate accurately the AS phenotype and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X-linked transmission, were collected. Characteristics of the 401 male patients belonging to the 195 families with COL4A5 mutation are presented. All male patients were hematuric, and the rate of progression to end-stage renal failure and deafness was mutation-dependent. Large deletions, non-sense mutations, or small mutations changing the reading frame conferred to affected male patients a 90% probability of developing end-stage renal failure before 30 yr of age, whereas the same risk was of 50 and 70%, respectively, in patients with missense or splice site mutation. The risk of developing hearing loss before 30 yr of age was approximately 60% in patients with missense mutations, contrary to 90% for the other types of mutations. The natural history of X-linked AS and correlations with COL4A5 mutations have been established in a large cohort of male patients. These data could be used for further evaluation of therapeutic approaches.

Adult↗
PubMedDate not supplied

Using reverse transcription and a competitive polymerase chain reaction for quantification of alpha1B-adrenoceptor mRNA.

Molecular cloning studies have revealed the existence of three subtypes of alpha1-adrenergic receptor (alpha1-AR), namely alpha1A, alpha1B and alpha1D. They are encoded by separate genes and have distinct pharmacological profiles. In rats' brain, the expression of mRNA for subtypes of an alpha1-AR is partially structure-dependent. Our previous studies employing Northern blot analysis of mRNA have shown that in the hippocampus, where alpha1A predominates, the alpha1B receptor (alpha1B-AR) was almost undetectable. The goal of the present study was to establish the method of reverse transcription and competitive polymerase chain reaction (RT-cPCR) to quantify a steady state level of alpha1B-AR mRNA in the hippocampus, prefrontal cortex and thalamus, and to compare the alpha1B-AR' pattern of expression with that revealed by Northern blot analysis. Our results have shown that alpha1B-AR is similarly represented in the thalamus and prefrontal cortex. In the hippocampus, ten times lower expression of alpha1B mRNA has been demonstrated with RT-cPCR, which was below a detection limit of Northern blot hybridization technique.

Animals↗
PubMedDate not supplied

[Genetic variation at STR-TH01 locus in the South Polish population].

We report on a rare allelic variant of the TH01 STR locus. Within this commonly used tetranucleotide repeat system, we identified and characterized by denaturating gel electrophoresis an allele of the size corresponding to 10.3 repeats, analogous to the most common 9.3 allele. The novel allele segregated from a putative father to the child in a paternity case. We discuss the advantage of high resolution second generation multiplex systems (SGM) using internal size standards during electrophoresis.

Alleles↗
PubMedDate not supplied

[Allelic variant 6' at locus D13S317 in a paternity casework; a semi-automatic genotyping problem].

During a routine paternity casework, performed with automated genotyping using an AmpFISTR Identifiler kit, an inconsistency affecting maternal segregation of D13S317 allele was encountered, manually detected as a variant allele in the mother and child. Alleles of the putative father were transmitted in 13 out of 15 autosomal STR loci, but in CSF1PO locus, there was an apparent mutation. We, therefore, directly sequenced the variant D13S317 allele in the mother and the child and compared the results to the available data on variant alleles within this STR locus. The variant allele consisted of 6 TATC repeats and an additional AATC motif, thus, by a similarity to the previously reported variant, it was labeled D13S317.6'. It seems that the variant allele is quite rare in the Polish population, however, its electrophoretic mobility between preceding TH01 alleles and that of D13S317 one, requires a careful scrutiny of automated genotyping traces to avoid misinterpretation of the results.

Alleles↗