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The aim of the present study was to screen the differentially expressed genes (DEGs) associated with familial combined hyperlipidemia (FCHL) and examine the changing patterns. The transcription profile of GSE18965 was obtained from the NCBI Gene Expression Omnibus database, including 12 FCHL samples and 12 control specimens. The DEGs were identified using a linear models for microarray data package in the R programming language. Gene Ontology (GO) function and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis was also performed. Protein-protein interaction (PPI) networks of the DEGs were constructed using the EnrichNet online tool. In addition, cluster analysis of the genes in networks was performed using ClusterONE. A total of 879 DEGs were screened, including 394 upregulated and 485 downregulated genes. Enrichment analysis identified four important KEGG pathways associated with FCHL: One carbon pool by folate, α-linolenic acid metabolism, asthma and the glycosphingolipid biosynthesis-globo series. GO annotation identified 12 enriched biological processes, including one associated with hematopoiesis and four associated with bone cell differentiation. This identification was in accordance with clinical data and experiments into hyperlipidemia and bone lesions. Based on PPI networks, these DEGs had a close association with immune responses, hormone responses and cytokine-cytokine receptors. In conclusion, these DEGs may be used as specific therapeutic molecular targets in the treatment of FCHL. The present findings may provide the basis for understanding the pathogenesis of FCHL in future studies. However, further experiments are required to confirm these results. [ABSTRACT FROM AUTHOR]

Schwann cells (SCs) are the major cells constituting the peripheral nerve structure and function, and also secret a variety of neurotrophic factors. Schwann cell (SC) transplantation has recently emerged as a promising therapeutic strategy for spinal cord injury (SCI). In the present study, the ability of genetically modified SCs producing high levels of glial cell line-derived neurotrophic factor (GDNF) to promote spinal cord repair was assessed. The GDNF gene was transduced into SCs. The engineered SCs were characterized by their ability to express and secrete biologically active GDNF, which was shown to inhibit apoptosis of primary rat neurons induced by radiation, and upregulate the expression of B-cell lymphoma 2 (Bcl-2) and downregulate the expression of Bcl-2 associated X protein (Bax) in vitro. Following SC implantation into the spinal cord of adult rats with SCI induced by weight-drop impact, the survival of rats with transplanted SCs, histology of the spinal cord and expression levels of Bcl-2 and Bax were examined. Transplantation of unmodified and genetically modified SCs producing GDNF attenuated SCI by inhibiting apoptosis via the Bcl-2/Bax pathways. The genetically modified SCs demonstrated markedly improved recovery of SCI as compared with unmodified SCs. The present study combined the outgrowth-promoting property of SCs with the neuroprotective effects of overexpressed GDNF and identified this as a potential novel therapeutic strategy for SCI. [ABSTRACT FROM AUTHOR]

This study aimed to analyze the correlation between single nucleotide polymorphisms (SNPs) of the actin, aortic smooth muscle (ACTA2) gene and coronary artery stenosis in patients with type 2 diabetes mellitus (T2DM). Eight SNPs from the promoter region of the ACTA2 gene were screened. Patients with T2DM (n=251) were divided into two groups, those with severe coronary stenosis (SCS+ group; n=168) and those without severe coronary stenosis (SCS- group; n=83). Patients were also divided according to lesion branching into those whose lesions involved less than threebranches (LCA- group) and those whose lesions involved at least three branches (LCA+ group). The clinical and laboratory data of the patients were collected, and the genotyping of eight SNPs was conducted followed by statistical analysis. Of the eight SNPs, only the rs1324551 SNP was identified to be significantly different between the SCS+ and SCS- groups (P<0.05). The frequency of the rs1324551 G allele and GG genotype in the SCS+ group was significantly higher than that of the SCS- group (P=0.044 and P=0.001, respectively). No significant difference was observed between the LCA- and LCA+ groups. Following the deduction of age, gender and traditional risk factors, the odds ratios of the GG genotype in additive and recessive models were 2.93 [95% confidence interval (CI), 1.05-8.19; P=0.04] and 2.34 (95% CI, 1.09-5.02; P=0.03), respectively, and this relevancy was represented only in patients with low insulin levels. Age and smoking were also found to increase the risk of coronary artery lesions. In conclusion, the rs1324551 SNP in the promoter region of the ACTA2 gene was identified to be independently correlated with the degree of coronary artery stenosis in patients with T2DM and plasma insulin may inhibit coronary artery stenosis during the pathogenic process. [ABSTRACT FROM AUTHOR]