Vitamin D binding protein genotype frequency in familial Mediterranean fever patients.

Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent short episodes (1-3 days) of inflammation and fever. FMF is associated with MEFV gene mutations but some patients with FMF symptoms do not have a mutation in the coding region of the MEFV gene. Vitamin D binding protein (VDBP) has important functions, including transporting vitamin D and its metabolites to target cells. Circulating levels of vitamin D are decreased in several inflammatory conditions, including FMF. Thus, we hypothesize that VDBP may play a crucial role in FMF pathogenesis, in addition to the MEFV gene. Method: VDBP genotyping was performed by polymerase chain reaction (PCR)-restriction fragment length polymorphism in 107 FMF patients and 25 healthy individuals without FMF or family history. For this, after amplification of genomic DNA, PCR products were digested with restriction enzymes HaeIII and StyI and evaluated electrophoretically. Results: We observed a statistically significant difference in the frequency of the 1F-2 genotype. The frequency of allele 2 was significantly higher and allele 1S was significantly lower compared to the [MEFV(-)] group and healthy controls (p = 0.034, 0.001, and 0.012, respectively). We observed a significant association between the presence of allele 2 and amyloidosis (p = 0.026) and arthritis (p = 0.044) in the [MEFV(-)] group. Conclusion: Our results suggest that FMF symptoms in the absence of MEFV gene mutations may be due to the presence of VDBP allele 2. Therefore, VDBP genotype may explain the symptoms in FMF [MEFV(-)] patients.

The effects of mitochondrial DNA deletion and copy number variations on different exercise intensities in highly trained swimmers.

It has been suggested that heavy exercise might increase oxidative stress, causing mitochondrial DNA (mtDNA) mutations as well as DNA mutations and changes in the mtDNA copy number in cells. mtDNA4977 deletion is one of the most common deletions seen on mitochondria. We hypothesize association between exercise induced oxidative stress and mtDNA damage in peripheral blood lymphocytes (PBLs) of highly trained swimmers. Therefore we studied the mtDNA4977 deletion level, mtDNA copy number and their relationship with cellular ATP and oxidative stress status in PBLs of swimmers. 8 highly trained and 8 normal trained swimmers and 8 non-athlete subjects were included in the study. The mtDNA4977 deletion and amount of mtDNA were measured using RT-PCR method whereas dichlorohydrofluoroscein (DCF) assay method was used to assess cellular oxidative stress and ATP levels were measured using bioluminescence method. Even though an increase in mtDNA4977 deletion was found in all study groups, the difference was not statistically significant (p=0.98). The mtDNA copy numbers were found to be surprisingly high in highly trained swimmers compared to normal trained swimmers and non-athlete subjects by 4.03 fold (p= 0.0002) and 5.58 fold (p=0.0003), respectively. No significant differences were found between groups by means of intracellular ATP levels (p=0.406) and oxidative stress (p=0.430).  No correlation was found between mtDNA copy number and intracellular ATP content of the PBLs (p=0.703). Our results suggest that heavy training does not have a specific effect on mtDNA4977 deletion but it may be affecting mitochondrial copy numbers which may act as a compensatory mechanism related to ATP levels in blood.

Results of the simultaneous measurements of radon around the Black Sea for seismological applications.

Results of measurements of radon around of the Black Sea are shown. Radon stations in zones of active faults were placed. Simultaneous hourly measurements of soil radon in 2005 were carried out in the Sivrice Fault Zone that is a segment of East Anatolian Fault System, in the town of Tbilisi (Georgia) and in the South Russia. In 2008 simultaneously hourly measurements of soil radon were carried out in the Western Caucasus (Russia) and in the Mytilene Island (Greece). In 2013 radon in underground waters simultaneously in midday was measuring in Crete (Greece), in the Pamukkale geothermal region (Southwest Turkey) and in the Western Caucasus. Measurements of radon concentration in the points located around of the Black Sea have shown identical regularities in changes of the data. Influence of meteorological, tidal and solar factors on changes of water radon concentrations and soil radon concentrations was observed in all researches points. But this influence was insignificant. Seismological application of observed results also was considered. Various mathematical methods of definition of anomaly in the radon data during earthquakes were considered. During researches in the Black Sea region basically earthquakes with M from 2.0 up to 5.0 and in a depth about 10 km were occurred. For these earthquakes method of daily subtraction of the data of the next and previous day was used. This method has allowed solving a problem with a choice of average value. Probability up to 0.69 (number of earthquakes with radon anomalies/total number of earthquakes) of detection of radon anomalies before earthquakes was achieved applying this method. Changes of radon maps before regional earthquakes were also observed. The frequency analysis of variations of the radon data on the basis of the Wavelet analysis was carried out. Occurrence of the short periods (about 2 days) was observed during regional earthquakes.

Association between interleukin-1 beta (IL-1beta) gene polymorphism and outcome after head injury: an early report.

BACKGROUND: Recent studies focusing on the genetic influences on outcome after head injury (HI) have suggested that different alleles of certain genes are associated with different outcomes. Interleukin-1 beta (IL-1beta) gene, especially beta2 polymorphism, is frequently observed in Alzheimer's disease, a remarkable degenerative state in which HI is among the known risk factors. Therefore, the aim of this paper was to search for the possible association between the outcome and IL-1beta gene polymorphism in human HI. METHODS: The study group was composed of the 69 patients admitted to the neurosurgery department after HI. The severity of the initial injury was evaluated by means of the Glasgow Coma Scale and outcome six months later was assessed by means of the Glasgow Outcome Scale. IL-1beta genotypes were determined from blood samples by standard methods. FINDINGS: Fourteen of 25 (56%) patients with IL-1beta +3953 allele 2 had an unfavourable outcome (dead, vegetative state or severe disability) compared with eight of 44 (18.1%) patients without IL-1beta +3953 (p = 0.0004). Similarly, 20 of 28 (71.4%) patients with IL-1beta -511 allele 2 had an unfavourable outcome compared with two of 41 (4.8%) patients without IL-1beta -511 (p = 0.005). Patients who had a composite of IL-1beta 2/2 or 1/2 genotype from both -511 and +3953 region of the chromosome 2 were more prone to have bad prognosis. CONCLUSION: Results of our study demonstrated that there might be a significant association between IL-1beta gene polymorphism and outcome after HI, supporting the hypothesis of a genetically determined influence.

Association between APOE polymorphisms and mesial temporal lobe epilepsy with hippocampal sclerosis.

To evaluate the hypothetical link between apolipoprotein E (APOE) polymorphisms and mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) and whether presence of APOE epsilon4 allele shortens the latent period between febrile seizures and epilepsy. A further interest is whether presence of APOE epsilon4 allele has an impact on severity of the disease. Forty-seven patients with MTLE-HS were compared with 62 controls. APOE polymorphisms were determined from lymphocytes by standard methods. Eight patients (17%) and 10 controls (16.1%) were demonstrated to have one APOE epsilon4 allele. There was not any statistically significant difference in APOE epsilon4 frequency between patients and controls (P > 0.05). There was not any difference statistically according to onset age of epilepsy and the presence of APOE epsilon4 allele within patient group. APOE epsilon4 polymorphisms did not influence the severity of epilepsy. APOE epsilon4 polymorphisms had no impact on outcome after surgery. Patients with bilateral memory deficits, bilateral hippocampal atrophy and with bilateral epileptiform interictal EEG transients, were independently compared with patients having unilateral features and there were not any statistically significant differences. This study has found no association between APOE epsilon4 polymorphisms and presentation of MTLE-HS in a group of Turkish patients.