Mutations in the mitochondrial gene ATPase6 occur frequently in Chinese patients with osteosarcoma, report researchers led by Qiao-Nan Guo from the Third Military Medical University in Chongqing, China, in an early online Experimental and Molecular Pathology article. Guo and colleagues sequenced the ATPase6 genes from 39 osteosarcoma samples, finding mutations in 24 of them that occurred at 27 different sites. Of the mutations seen, 19 were novel, though they occurred at low levels. In addition, the researchers noted that there was no association between the mutations and histopathological subtype. "MtDNA ATPase6 mutations may play a role in the tumorigenesis and development of osteosarcoma," the researchers write. "Further studies of the biochemical consequences of mtDNA ATPase6 mutations in osteosarcoma will provide insight into the roles of mitochondria in osteosarcoma tumorigenesis."
N-acetylglucosaminyltransferases V, or GnT-V, may be a marker for hepatocellular carcinoma as well as a possible treatment target for the disease, say Ting Wei from Southern Medical University in Guangzhou, China, and colleagues. To study the role of GnT-V in hepatocellular carcinoma, the researchers developed short hairpin RNAs targeting the GnT-V gene and transfected them into a HepG2 cell line. The researchers also examined clinical samples. From this, Wei et al. report that when GnT-V is down-regulated, the "proliferation, migration, invasion, and metastasisof HepG2 cells" is inhibited, and that GnT-V expression is more frequently seen in hepatocellular carcinoma than in liver cirrhosis or normal liver tissue. In addition, GnT-V expression increases as the cancer progresses. "These data from HepG2 cell line and clinical tissue all implied that GnT-V expression was positively related with malignancy in HCC," Wei et al. say. "Down-regulation of GnT-V may suppress the malignancy of HCC, so GnT-V may be both a differentiation marker and a potential target for the treatment of HCC."