Espression and significance of TMSG-1 expression in primary and liver metastases of colorectal cancer tissues / 临床与实验病理学杂志

Purpose To investigate the expression of tumor metastasis suppressor gene-1 (TMSG-1) in colorectal cancer tissues and liver metastases,and to analyses the relationship between expression of TMSG-1 and clinicopathologic characteristics. Methods Immunohistochemical SP methods was used to detect the expression of TMSG-1 protein in 200 cases of colorectal cancer and 52 cases of liver metastases. Results The ratio of high,moderate and negative of TMSG-1 expression in primary colorectal carcinoma were 42. 5％ (85/200) ,29. 5％ (59/200) and 28. 0％ (56/200) respectively. The expression of TMSG-1 was significantly associated with tumor differentiation, invasion depth,lymph node metastasis,distant metastasis and TNM stages (P < 0. 05) ,but unrelate to age,gender and tumor size. The high, moderate and negative expression ratio of TMSG-1 in liver metastases were 17. 3％ (9/52) ,50. 0％ (26/52) ,32. 7％(17/52) ,respectively. The expression of TMSG-1 in liver metastases was significantly lower than that in primary lesion (P < 0. 05) . The expression of TMSG-1 in liver metastases, and there was no significant correlation between the expression of TMSG-1 in liver metastases and clinicopathologic characteristics. Conclusion The expression of TMSG-1 is significantly down-regulated in the liver metastases,which is associated with the development and progression of colorectal cancer. TMSG-1 will be used as a new tumor marker for predicting the prognosis of colorectal cancer.

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Congenital cataract (CC) is the leading cause of visual impairment or blindness in children worldwide. Because of highly genetic and clinical heterogeneity, a molecular diagnosis of the lens disease remains a challenge.</p><p><b>METHODS</b>In this study, we tested a three-generation Chinese family with autosomal dominant CCs by targeted sequencing of 45 CC genes on next generation sequencing and evaluated the pathogenicity of the detected mutation by protein structure, pedigree validation, and molecular dynamics (MD) simulation.</p><p><b>RESULTS</b>A novel 15 bp deletion on GJA8 (c.426_440delGCTGGAGGGGACCCT or p. 143_147delLEGTL) was detected in the family. The deletion, concerned with an in-frame deletion of 5 amino acid residues in a highly evolutionarily conserved region within the cytoplasmic loop domain of the gap junction channel protein connexin 50 (Cx50), was in full cosegregation with the cataract phenotypes in the family but not found in 1100 control exomes. MD simulation revealed that the introduction of the deletion destabilized the Cx50 gap junction channel, indicating the deletion as a dominant-negative mutation.</p><p><b>CONCLUSIONS</b>The above results support the pathogenic role of the 15 bp deletion on GJA8 in the Chinese family and demonstrate targeted genes sequencing as a resolution to molecular diagnosis of CCs.</p>