Effect of micro RNA-335-5p regulating bone morphogenetic protein 2 on osteogenic differentiation of human bone marrow mesenchymal stem cells / 中国修复重建外科杂志

Objective: To investigate the effect of micro RNA (miR)-335-5p regulating bone morphogenetic protein 2 (BMP-2) on the osteogenic differentiation of human bone marrow mesenchymal stem cells (hBMSCs). Methods: hBMSCs were cultured in vitro and randomly divided into control group (group A), miR-335-5p mimics group (group B), miR-335-5p mimics negative control group (group C), miR-335-5p inhibitor group (group D), and miR-335-5p inhibitor negative control group (group E). After grouping treatment and induction of osteogenic differentiation, the osteogenic differentiation of cells in each group was detected by alkaline phosphatase (ALP) and alizarin red staining; the expressions of miR-335-5p and BMP-2, Runt-related transcription factor 2 (Runx2), osteopontin (OPN), and osteocalcin (OCN) mRNAs were detected by real-time fluorescence quantitative PCR analysis; the expressions of Runx2, OPN, OCN, and BMP-2 proteins were detected by Western blot. Results: Compared with group A, the relative proportion of ALP positive cells and the relative content of mineralized nodules, the relative expressions of BMP-2, miR-335-5p, OPN, OCN, Runx2 mRNAs, the relative expressions of Runx2, OPN, OCN, and BMP-2 proteins in group B were significantly increased ( P0.05). Conclusion: miR-335-5p can up-regulate BMP-2 expression and promote osteogenic differentiation of hBMSCs.

Advances in association between DNA methylation with environmental exposure in lung cancer / 肿瘤

Lung cancer is one of the most common malignant tumors and has higher morbidity and mortality world-wide. The genetic and environmental risk factors play important role in the process of tumorigenesis and cancer development. Cigarette smoking and some other environmental risk factors may be involved in the pathogenesis of lung cancer, including polycyclic aromatic hydrocarbons, particulate matter and occupational exposure. Studies have shown that epigenetic mechanism such as DNA methylation plays an essential role in relationship between lung cancer and the environmental risk factors. Aberrant DNA methylation is considered to be an early event during the process of lung cancer occurrence. This paper summarizes the recent studies on association of lung cancer and aberrant DNA methylation of genes induced by several common environmental factors including smoking, polycyclic aromatic hydrocarbons and particulate matter. Further understanding of DNA methylation in linking mechanism between lung cancer and environmental risk factors will help to clarify the pathogenesis and development of lung cancer. Moreover, abnormal DNA methylation induced by environment factors may be a potential epigenetic biomarker for early diagnosis and prognostic prediction of lung cancer.

Mutation analysis of GJB3 and GJB4 genes in two patients with erythrokeratodermia variabilis / 中华皮肤科杂志

ObjectiveTo detect the mutations of GJB3 and GJB4 genes in two sporadic cases of erythrokeratodermia variabilis(EKV).MethodsGenomic DNA was extracted from two sporadic patients with EKV,their family members,and 100 normal human controls.All the exons and adjacent splice sites of GJB3 and GJB4 genes were amplified by PCR.Mutation scanning was carried out via direct bidirectional DNA sequencing.ResultsA G134C mutation was found at the GJB3 gene in patient 1,which caused a substitution of glycine by alanine at codon 45 (G45A).No mutation was found in the GJB4 gene in case 1 or GJB3 and GJB4 genes in case 2.ConclusionA missence mutation G45A in GJB3 gene is found in a patient with EKV.

A clinical evaluation of acitretin therapy in children and adolescents with inherited keratodermas / 中华皮肤科杂志

Objective To evaluate the therapeutic effects and safety of acitretin for severe inherited keratodermas in children and adolescents. Methods Acitretin was given to 23 children and adolescents with either lamellar ichthyosis, bulbous ichthyosiform erythroderma, pityriasis rubra pillars, progressive sym- metrical erythrokeratoderma, keratitis ichthyosis deafness syndrome, generalized porokeratosis, inflammatory liner verrucous epidermal nevus, ichthyosis hystrix and non-bullous ichthyosiform erythroderma. The thera- peutic dosage was 0.67-1.07 mg/(kg?d),and maintenance dosage 0.08-0.94 mg/(kg?d).The effects on the patients' growth and development of the drug were evaluated based on the changes of body weight and height in the children. The total follow-up period was 6-35 months in an interval of 1-3 months. Results The considerable overall improvement was achieved after 1-6 months' treatment, with an overall clinical cure rate of 82.6%. Only one case responded poorly to the therapy. The excellent responses were observed in patients with bulbous ichthyosiform erythroderma, lamellar ichthyosis, and pityriasis rubra pillars, etc, and the much poor responses in ichthyosis hystrix. The most frequent adverse reaction was mild to moderate dry lips (65.2%),the next were pruritus(39.1%),skin fragility(34.8%),and dry mouth(30.4%).The less frequent adverse reactions were alopecia(13%),anorexia(8.7%),headache (4.3%) and hypoacusis (4.3%).No effects on the growth and development were found in those children during the follow up period. Conclusions The considerable overall improvement is achieved with the acitretin therapy for children and adolescents with inherited keratodermas, with only mild to moderate adverse reactions and no effects on the growth and development in the children.

Transglutaminase 1 gene mutations in a family with lamellar ichthyosis / 中华皮肤科杂志

Objective To detect the mutations of transglutaminase 1 (TGM1) gene in a family with lamellar ichthyosis. Methods The genomic DNA was extracted from the proband and his family members. All the encoding exons and adjacent splice sites of TGM1 gene were amplified by PCR. Mutation scanning was carried out via direct bi-directional DNA sequencing. Also the homology of TGM1 was analyzed. Results In the proband, there was a C504T mutation located at codon 142 (R142C) in exon 3 of TGM1 gene, and a nonsense mutation of C1122T located in exon 7, which caused a premature termination of R348X and a defective polypeptide truncated by 470 amino acids in C-terminus. A heterozygote of C504T mutation was carried by the proband′s father and a heterozygote of C1122T mutation in the proband′s mother. The missense mutation of R142C was found at the conservation region of TGM1 gene. Conclusion The mutations of R142C and R348X in TGM1 gene are present in the patient with lamellar ichthyosis.