Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogenous group of disorders. Useful classifi cation is still clinical and electrophysiological classifi cation that divides CMT into CMT type 1 - demyelinating form and CMT type 2 - axonal form. An intermediate type is also increasingly being determined. Inheritance can be autosomal dominant, X-linked and autosomal recessive (AR). In this review, we will focus on the clinical and/or electrophysiological findings and molecular genetics of ARCMT1 (CMT4). Ten genes, GDAP1, MTMR2, MTMR13, SH3TC2, NDRG1, EGR2, PRX, CTDP1, FGD4 and SAC3 have been identifi ed in the CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CCFDN, CMT4H and CMT4J types, respectively. In addition, susceptibility locus on chromosome 10q23 has been found for CMT4G disease. Molecular genetics of demyelinating ARCMT are large disabilities of proteins in Schwann cells and their functions (transcriptional factor, protein transport, protein sorting, intra/extra cellular compartments, signal transduction, cell division, and cell differentiation). It has been rising necessary requirements to defi ne clinical and genetic subtypes of the ARCMT1, prevent from disease, give reproductive and genetic counselling, and develop methods for reducing and clear disease risk factor.

Introduction. The acute coronary disease (ACD), broadly encompass the clinical states unstable angina (UA) and acute myocardial infarction (AMI), especially affects adults due to cause the impairment of work ability, associates reducement of life quality and high expenses of medical treatment, and induces leading cause of sever complication and death.Materials and Methods. In this study, 44 ACD patients and 33 healthy subjects enrolled into case and control group, respectively. Relationships of primary and intermediate risk factors between cases and healthy subjects were determined by questionnaire research and clinical examinations. Measurements such as C reactive protein (CRP), cholesterol, triglycerides, low-density lipoprotein (LDH), high-density lipoprotein (HDL), trooping I, and mean platelet volume (MPV) were analyzed by clinical laboratory assays. The SPSS12 statistical software was used for all statistical calculations.Results. Statistical significant differences of hypertension and smoking were observed in ACD patients (UA and AMI) (P<0.01) compared with healthy subjects by independent samples T test. Body mass (BM), waist-to-hip ratio (WHR), body mass index (BMI) were significantly different in patients with UA, but WHR, hip were significantly different in patients with AMI. The levels of biochemical measurements such as cholesterol, triglycerides, and glucose were significantly higher in patients with AMI (р<0.01), whereas glucose concentration was significantly higher in patients with UA (р<0.05). However, a kind of inflammatory markers, CRP was a risk factor in the patients with ACD (UA and AMI), whereas MPV was a risk factor for AMI only. In the ANOVA test, which was confirming analysis on the results of independent samples Ttest, overweight (BM), abdominal obesity (WHR, hip) measurements, parameter of glucose metabolism(glucose) and some inflammatory markers (CRP, MPV) were significantly different between study groups. Relationships by determined Pierson`s correlation, were observed between overweight parameters (BM, BMI) and biomarkers of fatty acid metabolism (cholesterol, LDL, HDL, triglycerides). The BM of overweight parameters and the WHR of abdominal obesity measurements were strongly associated with increased level of glucose.Conclusion. Primary risk factors including hypertension and smoking; parameters of the overweight or abdominal obesity such as BM, WHR, BMI and hip; biochemical measurements as cholesterol, triglycerides and glucose; and some inflammatory biomarkers as well as CRP and MPV were risk factors in the ACD.

The purpose of the present study was to elucidate genealogical and clinical features of hereditary neuropathy in the several kindreds of Gobi-Altai province.Materials and Methods: In the present study, we investigated five kindreds originated from Bayan-Uul sum, Gobi-Altai province on the basis of previous surveys. Each participant was enrolled for genealogical and neurological examinations according to specific questionnaire. We also collected biological samples for further genetic study. Genomic DNA was isolated from biological samples, and quantitative analysis of DNA was determined by spectrophotometer and Picogreen assays.Results: Twenty members from five kindreds were investigated. Genealogical analysis revealed that there is a linkage between two kindreds within the families enrolled into study, whereas no association was revealed among the other pedigrees. As a phenotype of the hereditary neuropathy, the clinical features were inherited in every generation, and the inheritance was not dependent on the gender. In neurological examination, age of hereditary neuropathy onset was detected as follows. The clinical features appeared in the first decade of life in 4 patients, in the second decade of life in 5 patients, and for the other members the disease started in the age of over 20 years. Common clinical features of hereditary neuropathy were characterized by hypomimic- and mask shape face, muscular atrophy of upper and lower limbs, and pes cavus. Interestingly five female patients had similar gynecological problems. Conclusions:1. The hereditary neuropathy exists in the kindreds of Bayan-Uul sum, Gobi-Altai province and the type of inheritance could be categorized as autosomal dominant.2. Onset of hereditary neuropathy disease was started mostly in the second decade of life. Common clinical features of hereditary neuropathy were characterized by hypomimic- and mask shape face, muscular atrophy of upper and lower limbs, and pes cavus. Apart from general clinical features, the specific complications related to metabolic disorders and pregnancy was detected.

Background: The incidence of acute SAH has been estimated at 2–22 cases per 100 000 persons per year. The most common cause of basal acute SAH is a ruptured cerebral aneurysm. Cerebral vasospasm in the first 2 weeks after aneurysmal subarachnoid hemorrhage is recognized as a major predictor of delayed cerebral ischemia. From 2014 through 2018, 5272 patients with a stroke (amongst them 20.4% were patients with aSAH) were hospitalized in the 3rd State Central Hospital of Mongolia. Objective: To study the clinical features of the cerebral vasospasm and dopplerosonography parameters in the aSAH patients. Materials and Methods: The methods, methodology and ethics of the research work were discussed at a Research meeting of Ethics Control Committee of the Mongolian National University of Medical Sciences held on December 22, 2017 (No2017 / 3-05), and the study was performed in accord with approval.
60 patients with aSAH (hospitalized from 2017 to 2018 year) were enrolled in the case-control study. Informed consent were obtained from each participants. Clinical condition of participants was classified by Hunt-Hess scale (HHS). Cerebral vasospasm degree was graded by Lindegaard index. Results: 52.5% of the participants were men and 47.5% were women. Average age was 49.9±12. When clinical condition degree was compared to vasospasm grade it was revealed that amongst 1st degree of Hunt-Hess scale (HHS) group 11.1% of enrolled patients’ spasm was normal or had no spasm, while it was observed either 44.4% mild and moderate spasm. In the 2nd degree of HHS group: normal in 6.9%, mild in 3.4%, moderate in 86.2%, and severe spasm was in 3.4%. In the 3rd degree of HHS group, 11.1% had no spasm, moderate spasm was in 77.8%, and severe spasm was in 11.1%. In 4th degree of HHS group, 71.4% were with moderate spasm, 28.6% were with severe spasm (p = 0.001).
When the Hunt-Hess Scale was compared to the Sinus Rectus 1st degree of Hunt-Hess scale (HHS) group Sinus Rectus was normal for 22.2% patients, mild for 66.7% and severe for 11.1%. Though 4th and 5th degree of Hunt-Hess scale (HHS) groups’ Sinus Rectus mild for 7.1% normal, 50.0% mild and 42.9% severe (p=0.007). Thus whenever the clinical condition worsened the cerebral intracranial pressure was increasing. Conclusion aSAH patients clinical complication degree were directly associated with the cerebral vasospasm revealed by the transcranial dopplerosonography. Therefore, the evaluation of Hunt-Hess scale has an important significance in the prevention from clinical complications and in the selection of the appropriate treatment approaches for aSAH patients.

Background: Prostate cancer is a common cancer in older men worldwide and is one of the most difficult cancers to diagnose and treat clinically. Prostate cancer is caused by multiple risk factors and has been shown to occur through the interaction and alteration of multiple genes. TARBP1 is an RNA-binding protein that is overexpressed in some tumors. Aim: Identification of genes related to nucleotide metabolism that influence biochemical recurrence of prostate cancer Materials and Methods: Genes related to nucleotide metabolism were identified using weighted gene co-expression network analysis (WGCNA) from the Prostate Cancer Genome Atlas (TCGA-PRAD) database. Genes were identified using differential gene expression analysis. Some of the differentially expressed genes were confirmed by immunohisto chemistry (IHC) analysis of tumor tissues. Results: Data from 481 prostate cancer patients and 51 healthy tissue samples from the Prostate Cancer Genome Atlas database were analyzed. 105 genes related to nucleotide metabolism were identified that were statistically significantly differentially expressed between prostate cancer and healthy tissue (P < 0.001). Five genes (RGS11, KAT2A, MXD3, TARBP1, WFIKKN1) were identified as biomarkers for biochemical recurrence of prostate cancer. TARBP1 was significantly overexpressed in prostate cancer compared with healthy tissue. Conclusions In prostate cancer, the expression of some genes related to nucleotide metabolism is altered, and five genes have been identified that predict the biochemical recurrence of prostate cancer. TARBP1 is highly expressed in prostate cancer tissue.

Background: In the era of science and technology /development, it have been using a laboratory animals to confirm theory and evidences of biology, medical and veterenary sciences. The value of laboratory animals sciences are still a very important. Because, the studies of laboratory animals are used for instead of human being and biosafety evaluation, and so on. Goal: To describe the current sitution analysis of general usage of laboratory animals in the Mongolian institutes, universities and biotechnological factories. Materials and Method: In this study, we used a questionnaire that is covering belongs to the quantity counting numbers of laboratory animals, information of colonies and breeding, euthanizing methods, infectious disease in the laboratory animals, experimental types, special food and bedding. Results: Each year were used more than 10000 animal of 9 species. Mouse, rat, rabbit and guine pig are commonly used in laboratory experiments in Mongolia. Laboratory animals imported from Russia and China, mainly. These animals uses to study toxicity and virulences, lethal dose of newly revealed substances, drug testing and diagnosis. We have conducted some comparison of laboratory animal used with the same situation of other countries. Conclusions
1. Study results are indicating that the usage of laboratory animals on biological studies among the Mongolian scientists is too low as compaired to other countries.
2. It has no standarzided technical, legal provisions technical legal documents such as SOPs and other douments, but also specialized HRs.
3. Therefore, it has been raised following requirements which are to expand national- and international cooperation, to be a official member in the international association of laboratory animal sciences, to share experiences and reports between the specialists in the Asian- and international level.

Introduction: After central nervous system injury, microglia cells are activated to initiate inflammatory responses and release cytokines that beneficially or detrimentally affect surrounding cells. Lipopolysaccharide stimulates microglia cells and produce pro-inflammatory cytokines such as interleukin (IL)-1β, IL-6 and tumor necrosis factor (TNF)-α. A dehydrocostus lactone (DDL) which is contained in medicinal plant, Saussurea lappa, is considered to have various health benefits in neurodegenerative diseases of central nervous system.
In this study, we aimed to investigate the anti-inflammatory effects of Dehydrocostus Lactone following lipopolysaccharide stimulation of microglial cells in vitro. Materials and Method: The anti-inflammatory effects of dehydrocostus lactone were studied using lipopolysaccharide (LPS) stimulated murine microglia (BV2). BV2 were cultered in DMEM then three different doses (4µM, 8µM and 12µM) of DDL were added in the medium for 30 minutes respectively. Then BV2 were treated with 1 ng/ ml LPS for 24 hours to stimulate. The level of IL-1β, IL-6 and TNF-α were measured in 100µl of culturemedium supernatant by ELISA. Three different doses of DDL anti-inflammation groups (BV2+DDL+LPS), LPS-activated group (BV2+LPS) and control group (only BV2) were analysed. Results: LPS-treated BV2 cells had increased IL-1β, IL-6 and TNF-α compared with those without LPS treatment. Pretreatment with dehydrocostus lactone prior to LPS treatment significantly decreased levels of IL-1β and TNF-α in a dose-dependent manner compared with LPS-treated BV2 cells and 4µM was the most effective anti-inflammatory dose of dehydrocostus lactone. As for IL-6, 12µM dehydrocostus lactone was the most effective anti-inflammatory dose, although all doses significantly decreased the level of IL-6, in a dose-dependent manner. Conclusion These results show that DDL decrease inflammation related IL-1β, IL-6 and TNF-α in a dose-dependent manner in microglia cells.

Background: The effect of lipopolysaccharide (LPS) on valproic acid (VPA)-induced cell death was examined by using mouse RAW 264.7 macrophage cells. Materials and methods, results: LPS inhibited the activation of caspase 3 and poly (ADP-ribose) polymerase (PARP) and prevented VPA-induced apoptosis. LPS inhibited VPA-induced p53 activation and pifithrin-α as a p53 inhibitor as well as LPS prevented VPA-induced apoptosis. LPS abolished the increase of Bax/Bcl-2 ratio, which is a critical indicator of p53-mediated mitochondrial damage, in response to VPA. The nuclear factor (NF)-κB inhibitors, Bay 11-7082 and parthenolide, abolished the preventive action of LPS on VPA-induced apoptosis. A series of toll-like receptor (TLR) ligands, Pam3CSK4, poly I:C, and CpG DNA as well as LPS prevented VPA-induced apoptosis. Conclusion Taken together, LPS was suggested to prevent VPA-induced apoptosis via activation of anti-apoptotic NF-κB and inhibition of pro-apoptotic p53 activation.

Introduction: The aim of this research project is to elucidate the crosstalk of innate and adaptive immune reactions against the DNA containing bacteria. : This study held in the Core laboratory, Science Technology Center, Mongolian National University of Medical Sciences (MNUMS). Murine aortal endothelial cells, END-D cultured and the cell viability checked by MTT assay. In addition, the NO production, protein and gene expression studied by Griess Reagent assay, R.T-PCR and immunoblotting, respectively. Results: 0.1µM, 1µM and 10µM of TLR9 ligand exhibited no cytotoxic action against the cells by MTT assay. IFN-ү alone induced NO production in END-D cells. In the other hand, TLR9 ligand at 0.1µM, 1µM and 10µM up-regulated IFN-ү induced NO production in dose dependent manner. RTPCR results exhibit that TLR9 ligand up regulates iNOS mRNA. Immunoblotting analysis showed the enhanced iNOS protein expression and phosphorylation of STAT1 in cells pre-treated with TLR9 ligand. Discussion: We have demonstrated CpG DNA, TLR9 ligand, up-regulates IFN-ү induced NO via enhanced IFN-ү signaling. The result of Western Blotting and RT-PCR support the up-regulation of NO. CpG DNA can be used as agent against virus and bacteria. Further research need to be conducted. Conclusion TLR9 ligand, CpG DNA up-regulates IFN-ү induced NO production in time and dose dependent manner. TLR9 ligand augments the expression of iNOS mRNA and STAT1 phosphorylation in response to IFN-ү.

Background and Aims: Hepatocellular carcinoma (HCC) is a common cause of cancer related death in Mongolia. Early diagnosis is the very important management to increase successful treatment and survival rate. Glypican-3 (GPC3) protein is highly expressed in hepatocellular carcinoma (HCC) tissue and in serum of HCC patients. Recent studies have been conducted and suggested as a diagnostic biomarker for detecting HCC in the early stage. Therefore, we investigated the diagnostic value of the serum GPC3 level and compared it to the alpha-fetoprotein (AFP) level as a diagnostic biomarker of HCC. Methods: We enrolled a total of 90 participants and divided into 3 groups with HCC (30), with liver cirrhosis (LC/30) and healthy (30) as the control group (30). GPC3 and AFP serum (sGPC-3, sAFP) levels were measured using commercially available enzyme-linked immunosorbent assay kits. The diagnostic accuracy was analyzed using the receiver operating characteristics (ROC) curve and estimated sensitivity and specificity of each biomarker. Results: sGPC3 was significantly elevated in the HCC group as compared to liver cirrhosis and healthy subjects (658±138.2 pg/ml, 378±25.5 pg/ml, 356.3±29 pg/ml) respectively. sGPC-3 sensitivity was 96.6% and specificity was 100%. The area under the ROC curve (AUC) for GPC3 was 0.999 (0.996- 1.0).
In comparison, the mean of AFP was significantly higher in HCC (16.9±11.7 ng/ml) than in LC (6.7±7.6 ng/ml) and in healthy subject (3.3±2.1 ng/ml) and AFP sensitivity was 43,3 %, specificity was 95 % with an AUC of 0.808 (0.696- 0.921).
The combination of GPC-3 with AFP achieved the highest sensitivity (97.1%) and specificity (97%). Conclusion Serum GPC3 has a higher sensitivity than AFP for the early diagnosis of HCC. Combination of two markers showed greatest diagnostic accuracy.