Global Expression Profiling in Epileptogenesis: Does It Add to the Confusion?

Since the inception of global gene expression profiling platforms in the mid-1990s, there has been a significant increase in publications of differentially expressed genes in the process of epileptogenesis. In particular for mesial temporal lobe epilepsy, the presence of a latency period between the first manifestation of seizures to chronic epilepsy provides the opportunity for therapeutic interventions at the molecular biology level. Using global expression profiling techniques, approximately 2000 genes have been published demonstrating differential expression in mesial temporal epilepsy. The majority of these changes, however, are specific to laboratory or experimental conditions with only 53 genes demonstrating changes in more than two publications. To this end, we review the current status of gene expression profiling in epileptogenesis and suggest standard guidelines to be followed for greater accuracy and reproducibility of results

Biobanks and Ethical Issues in Biobanking

In this article definition and importance of biobanks; examples of biobanks in the world and ethical sues in biobanking and their impotance have been reviewed

Population data for 17 Y-STRs in samples from Southeastern Anatolia region of Turkey

In this study, Y chromosome short tandem repeats (Y-STR) haplotype data were obtained for 86 individuals from the Southeastern Anatolia region of Turkey. Allele frequencies were determined for 17 Y-STRs and haplotypes were obtained. The highest gene diversity was observed at DYS385 (0.95) while the lowest was at DYS437 (0.44). A total of 79 different haplotypes were identified, of which 74 were unique. The haplotype diversity for all loci and discrimination capacity were calculated as 0.9959 ± 0.0029 and 0.92, respectively. Haplotype data for different neighbouring populations obtained from YChromosome Haplotype Reference Database (YHRD) were used for comparison. The result of the Analysis of Molecular Variance (AMOVA) indicated that there is no significant genetic distance between Southeastern Anatolia population and neighbouring populations at all. Armenian, Rasht (Iran-Gilaki) and Izeh (Iran-Bakthiari) populations were found to be closest to our population, while Syria and Iraq populations were more distant. © Kamla-Raj 2013

Genetic characterisation of 19 autosomal STR loci in a population sample from the Southeastern Anatolia Region of Turkey

Background: Southeastern Anatolia is the smallest, yet the most densely populated region among the seven major geographic constituents of Turkey. Situated in the Upper Mesopotamia, Southeastern Anatolia was also the northernmost extension of the Fertile Crescent, which is often considered as the earliest cradle of civilisation. Aim: To investigate the autosomal STR polymorphisms associated with a truly representative population sample pool from Southeastern Anatolia. Subjects and methods: Samples from a total of 257 volunteers were analysed by 19-loci autosomal STRs using the commercially available COrDIS Plus Kit. Allele frequencies, statistical parameters of forensic interest and Nei’s DA distances with respect to the nearby and distant populations were calculated, besides performing exact tests of population differentiation with the same populations. Results: A combined matching probability of 1.49978 × 10−23 and a combined power of exclusion of 0.999999961 were obtained for the novel Southeastern Anatolian autosomal STR dataset. Furthermore, the Southeastern Anatolia population was found to have close genetic affinities with the other regional populations from Turkey, along with those from an apparent genetic continuum extending from the Near East to Southeastern Europe. Conclusions: The novel Southeastern Anatolian dataset is expected to be useful in regional forensic genetics investigations and molecular anthropology applications

Association of an LMP2 Polymorphism with Acute Myeloid Leukemia and Multiple Myeloma

Hematological malignancies (HM) are a group of neoplasms derived from the cells of the bone marrow and lymphatic system. Genetic factors leading to susceptibility to HM have been investigated for years but little is known yet. Low molecular weight polypeptide (LMP) 2 and LMP7 genes are important subunits of the immunoproteasome and play significant role in antigen presentation. The polymorphisms of LMP genes have been reported to be risk factors for various types of diseases. The aim of this study was to investigate the association of LMP2 and LMP7 polymorphisms with the occurrence of particular types of HM. A total of 132 patients with HM and 130 control subjects were investigated. No significant difference was obtained in the distribution of genotype and allele frequencies of LMP7 gene in HM patients and the control group. On the other hand, the prevalence of LMP2-AA genotype was found to be higher in acute myeolid leukemia (AML) patients while it was significantly lower in multiple myeloma (MM) cases than in the control subjects. Our results suggested that LMP7 could not be a risk factor for susceptibility to HM, whereas LMP2 polymorphisms could play a role in the development of AML and MM

Association of an LMP2 Polymorphism with Acute Myeloid Leukemia and Multiple Myeloma

Hematological malignancies (HM) are a group of neoplasms derived from the cells of the bone marrow and lymphatic system. Genetic factors leading to susceptibility to HM have been investigated for years but little is known yet. Low molecular weight polypeptide (LMP) 2 and LMP7 genes are important subunits of the immunoproteasome and play significant role in antigen presentation. The polymorphisms of LMP genes have been reported to be risk factors for various types of diseases. The aim of this study was to investigate the association of LMP2 and LMP7 polymorphisms with the occurrence of particular types of HM. A total of 132 patients with HM and 130 control subjects were investigated. No significant difference was obtained in the distribution of genotype and allele frequencies of LMP7 gene in HM patients and the control group. On the other hand, the prevalence of LMP2-AA genotype was found to be higher in acute myeolid leukemia (AML) patients while it was significantly lower in multiple myeloma (MM) cases than in the control subjects. Our results suggested that LMP7 could not be a risk factor for susceptibility to HM, whereas LMP2 polymorphisms could play a role in the development of AML and MM

Expression and cellular distribution of high- and low-affinity neurotrophin receptors in malformations of cortical development

An increasing number of observations suggests an important and complex role for both high- (tyrosine kinase receptor, trk) and low- (p75) affinity neurotrophin receptors (NTRs) during development in human brain. In the present study, the cell-specific distribution of NTRs was studied in different developmental lesions, including focal cortical dysplasia (FCD, n = 15), ganglioglioma (GG, n = 15) and dysembryoplastic neuroepithelial tumors, (DNT, n = 10), from patients with medically intractable epilepsy. Lesional, perilesional, as well as normal brain regions were examined for the expression of trkA, trkB, trkC and p75(NTR) by immunocytochemistry. In normal postmortem human cortex, immunoreactivity (IR) for trk and p75(NTR) was mainly observed in pyramidal neurons, whereas no notable glial IR was found within the white matter. All three trk receptors were encountered in high levels in the neuronal component of the majority of FCD, GG and DNT specimens. Strong trkA, trkB and trkC IR was found in neurons of different size, including large dysplastic neurons and balloon cells in FCD cases. In contrast, p75(NTR) IR was observed in only a small number of neuronal cells, which also contain trk receptors. Glial cells with astrocytic morphology showed predominantly IR for trkA in FCD and GG specimens, whereas oligodendroglial-like cells in DNT showed predominently IR for trkB. P75(NTR) IR was observed in a population of cells of the microglial/macrophage lineage in both FCD and glioneuronal tumors. Taken together, our findings indicate that the neuronal and the glial components of malformations of cortical development express both high- and low-affinity NTRs. Further research is necessary to investigate how activation of these specific receptors could contribute to the development and the epileptogenicity of these developmental disorders