Introduction. Since the end of the last century, dysfunction of the trace element composition of blood in various forms of scoliosis has been an urgent problem in several studies. Hidden deficiency of trace elements, associated with insufficient food consumption or low absorption in the body, can cause progressive bone deformities. In this context, special importance is attached to trace elements, such as copper, selenium, zinc, boron, manganese, and others. The study of the trace element concentrations in patients with congenital spinal deformities currently is an important and significant task. Aim. We assess the trace element composition of whole blood in children with congenital deformities of the thoracic and lumbar vertebral columns. Materials and methods. We analyzed the trace element status of blood in 108 patients (aged 216 years) with congenital deformities of the thoracic and lumbar spine (CSD). The congenital vertebral anomalies included disorders of formation, fusion, and/or segmentation of the vertebrae. The control group consisted of 35 healthy children of identical age. Blood ethylenediaminetetraacetic acid (EDTA) was examined using mass spectrometry with inductively coupled plasma (ICP-MS ThermoScientific, iCAP RQ). Results and discussion. The content of 33 essential and conditionally essential trace elements in the whole blood of patients with CSD was determined. In 37% of patients the zinc, copper, selenium, and chromium levels were decreased compared with the controls. In 7% and 89% of patients the selenium and of chromium levels, respectively, were especially low, below the sensitivity of the device. Conclusion. The statistically significantly low content of zinc, copper, selenium, and chromium in the whole blood of patients with CSD may have a role in the pathogenesis of the disorders. Further investigations are needed to evaluate their importance as a marker of disease progression.

Polymorphisms of neurotransmitter metabolism genes were studied in patients with prostate cancer (PC) characterized by either reduced or extended serum prostate-specific antigen doubling time (PSADT) corresponding to unfavorable and favorable disease prognosis respectively. The 'unfavorable prognosis' group (40 cases) was defined by PSADT ≤ 2 months, whereas patients in the 'favorable prognosis' group (67 cases) had PSADT ≥ 30 months. The following gene polymorphisms known to be associated with neuropsychiatric disorders were investigated: a) the STin2 VNTR in the serotonin transporter SLC6A4 gene; b) the 30-bp VNTR in the monoamine oxidase A MAOA gene; c) the Val158Met polymorphism in the catechol-ortho-methyltransferase COMT gene; d) the promoter region C-521T polymorphism and the 48 VNTR in the third exon of the dopamine receptor DRD4 gene. The STin2 12R/10R variant of the SLC6A4 gene (OR = 2.278; 95% CI = 0.953-5.444) and the -521T/T homozygosity of the DRD4 gene (OR = 1.579; 95% CI = 0.663-3.761) tended to be overrepresented in PC patients with unfavorable disease prognosis. These gene variants are regarded as protective against schizophrenia, and the observed trend may be directly related to a reduced PC risk described for schizophrenia patients. These results warrant further investigation of the potential role of neurotransmitter metabolism gene polymorphisms in PC pathogenesis. Research Paper Oncotarget 699 www.oncotarget.com * CI -confidence interval. ** Analyzed patient numbers are lower than group totals as genotyping failed in some cases. Additional genotype groupings are italicized. * CI -confidence interval. ** Indicated numbers of analyzed patients differ from group totals as genotyping failed in some cases. Additional genotype groupings are italicized.

Introduction. Spine congenital curvatures, which form from anomalies in the development of vertebral bodies, comprise 3.2% of the general structure of vertebral column deformities. Several such anomalies present during adolescence lead to severe and rigid curvature of the spinal column and are often accompanied by irreversible neurological disorders. The timely detection of the progressive forms of curvature and early surgical treatment are measures that prevent against neurological deficit development and gross congenital deformities of the spine in children. However, it is extremely difficult to predict the course of congenital spinal column deformation in infants based on clinical and radiological investigations alone. Therefore, the study of congenital malformation genetic markers is an essential and immediate task. Materials and methods. Two hundred 1.2–16-year-old children with congenital deformities of the thoracic and lumbar spine were examined using clinical and radiation diagnostic methods. Molecular genetic studies were performed by analyzing several polymorphic regions in the genes for the first and second stages of detoxification and DNA repair, which are of clinical importance as predisposing factors in several congenital malformations. Polymorphisms were determined using the polymerase chain reaction (PCR) method. The results were determined using gel electrophoresis of DNA in a polyacrylamide gel. Results and discussion. The polymorphisms of the genes CYP1A2, NAT2, GSTM1, GSTT1, GSTP1, XRCC1, XRCC3 and their frequency distributions among patients with congenital spine deformities (CSD) were studied. The results for each gene are presented in the digital diagrams, and their indicators are compared with the values of the control group. Conclusion. In most patients (83%) with spinal congenital deformations, there were mutations of candidate genes in the homozygous state; however, the simultaneous carriage of several mutant alleles in patients with CSD was more than twice that in the control group. Children with multiple and combined defects in spine development noted the presence of more mutations in the genes for detoxification and DNA repair. The obtained results already assume to a certain extent the course of the spine congenital deformity in patients at an early age. However, the final evaluation and identification of molecular genetic criteria for the progressive course of spine congenital deformities in children requires further study.

Background. One of the most common orthopedic pathologies in children aged 10–18 years is idiopathic scoliosis, which is diagnosed in 2%–3% of cases in the general population. Aim. To compare the distributions of the allele frequencies and folate cycle gene genotypes among the MTHFR 677 C>T (rs 1801133), MTHFR 1298 A>C (rs 1801131), MTR 2756 A>G (rs 1805087), and MTRR 66 A>G (rs 1801394) polymorphisms in patients with idiopathic scoliosis and in children without spinal deformity. To also analyze the relationship between the studied molecular-genetic markers and development of scoliosis. Materials and methods. Clinical and genetic examinations were performed in 48 children with idiopathic scoliosis and 32 healthy children. Molecular-genetic testing was performed by polymerase chain reaction. Results and discussion. We found that the percentage of carriers of pathological alleles and genotypes was higher in the children with idiopathic scoliosis than in the general population. The number of pathological alleles and genotypes associated with the MTHFR (A1289C) and MTRR genes was significantly higher in patients with idiopathic scoliosis than in the control group. Сonclusion. We found that the percentage of carriers of pathological alleles and genotypes was higher in children with idiopathic scoliosis than in the population.

Боковой амиотрофический склероз (БАС)-прогрессирующее нейродегенеративное заболевание, характеризующееся поражением центральных и периферических двигательных нейронов. Доказан вклад генетических факторов в патогенез заболевания. Наиболее часто определяемая мутация при семейной и спорадической формах БАС в европейской популяции-экспансия в гене C9orf72. Известно, что предэкспансия в гене ATXN2 также увеличивает риск развития БАС. Мы исследовали 82 пациента с различными формами БАС и 40 человек без симптомов поражения двигательных нейронов на носительство этих мутаций. Все пациенты были включены в исследование согласно критериям диагностики БАС (El-Escorial, 2000 г.). Целью исследования явилось определение частоты встречаемости мутаций в генах С9orf72 и ATXN2 у пациентов со спорадической формой БАС и проведение клиникогенетического сопоставления в обследованной группе пациентов. Частота встречаемости мутаций в гене ATXN2 составила 8,5% (7 человек), С9orf72-2,4% (2 человека). В статье описаны клинические характеристики пациентов с БАС при наличии данных генетических мутаций. Группа пациентов с выявленной предэкспансией в гене ATXN2 характеризовалась клинической гетерогенностью в виде различных клинических форм и темпов прогрессирования заболевания от медленного до стремительного. Ключевые слова: боковой амиотрофический склероз, БАС, ATXN2, С9orf72, мутация.