1.Molecular Genetics of Autosomal-Recessive Demyelinating Charcotmarie-Tooth Disease (Review Article)
Bilegtsaikhan Ts ; Gandolgor Ts ; Oyungerel G ; Munjhtuvshin N ; Munkhbat B
MONGOLIAN MEDICAL SCIENCES 2010;151(1):37-42
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.
2.Evaluation of risk factors and predictive biomarkers in the acute coronary disease
Ulziisaikhan J ; Bilegtsaikhan TS ; Gerelmaa CH ; Gandolgor TS ; Mungunkhuyag M ; Zulgerel D
Mongolian Medical Sciences 2011;172(2):50-55
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.
3.The key role of transcription factors on the innate immunity reaction
Ulziisaikhan J ; Gandolgor Ts ; Tsogtsaikhan S ; Yokochi T ; Enkhsaikhan L ; Jambaldorj J ; Munkhbayar S ; Munkhtuvshin N ; Munkhbat B ; Bilegtsaikhan Ts
Health Laboratory 2019;10(2):23-33
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.