目的报道1例33岁男性,头痛后继以卒中样发作,影像学提示基底节区和颞枕叶缺血性改变,肌肉活检证实线粒体结构和功能异常的患者的基因突变。方法我们应用基因分析未发现常见致病性突变,因此应用 DNA 芯片扫描线粒体基因全序列,寻找可能...目的报道1例33岁男性,头痛后继以卒中样发作,影像学提示基底节区和颞枕叶缺血性改变,肌肉活检证实线粒体结构和功能异常的患者的基因突变。方法我们应用基因分析未发现常见致病性突变,因此应用 DNA 芯片扫描线粒体基因全序列,寻找可能的致病突变。通过 DNA 芯片扫描线粒体基因全序列,应用直接测序法证实突变。结果在线粒体 DNA 共发现了3个新突变,其中 T6253C 突变导致细胞色素 C 氧化酶1第117位保守的蛋氨酸被苏氨酸取代,患者的母亲也携带相同的突变,而98名健康个体无人携带此突变,我们认为 T6253C 是导致该患者发病的致病突变。结论这是首例关于细胞色素 C 氧化酶1基因点突变导致线粒体脑肌病伴有高乳酸血症和卒中样发作综合征的报道。展开更多
As compared with normal cells, cancer cells or malignant cells were morphologically abnor-mal : their contact inhibition and normal growth order were lost, the DNA content and ploid increased and suchkind of cells wer...As compared with normal cells, cancer cells or malignant cells were morphologically abnor-mal : their contact inhibition and normal growth order were lost, the DNA content and ploid increased and suchkind of cells were transplantable. It the malignancy should be decreased or the malignant cells reversed, theabove abnormal changes could be reduced or disappear. BALB/c mice bearing ascites liver cancer wereused, Chinese herbal prescription combined with copper and ferrum (CHPCCF) was given by gavage for 10days, and then some cell-biological parameters were measured; further , the ascites cancer cells (controland treatment) were removed and retransptanted to another mice and observed. The results showed that inCHPCCF treatment group, DNA content of the cancer cells was decreased, and the proliferation index wasreduced (control : 83 . 4 ± 2 . 6, CHPCCF group : 78. 8 ± 1 . 5 ; or control : 67. 2 ± 1 . 3 , CHPCCF group : 64. 2 ±l . 6, P < 0. 02) , the number of the cancer cells in Gl phase increased obviously, but, those of S + G2Mphases decreased ( P < 0. 05 ￣ 0. 01 ) ; on the DNA histogram, the diploid peak became higher and bigger,but aneuploid or multiploid peaks became smaller. Furthermore, retransplanted experiments showed that in2/10 animals, the tumors did not grow, and in other 8/10 animals , the tumors grew, but the tumors' sizewere smaller than that of the control ; the growth inhibition rate was 71 . 7% ￣ 88. 3% ; and tumors ' grewslowly ; the growth curve of the tumors in CHPCCF group was considerably lower than that of the control ; thesurvival period of retransplanted animals was prolonged significantly (from 26. 1 ± 11 . 8 to 38. 1 ± 9. 6, or to39 . 6 ± 7 . 2 days, P<0 . 01 ); the increase in life span was 46% and 52% respectively. The results suggestedthat CHPCCF could reduce the malignancy of mice liver cancer cells.展开更多
文摘目的报道1例33岁男性,头痛后继以卒中样发作,影像学提示基底节区和颞枕叶缺血性改变,肌肉活检证实线粒体结构和功能异常的患者的基因突变。方法我们应用基因分析未发现常见致病性突变,因此应用 DNA 芯片扫描线粒体基因全序列,寻找可能的致病突变。通过 DNA 芯片扫描线粒体基因全序列,应用直接测序法证实突变。结果在线粒体 DNA 共发现了3个新突变,其中 T6253C 突变导致细胞色素 C 氧化酶1第117位保守的蛋氨酸被苏氨酸取代,患者的母亲也携带相同的突变,而98名健康个体无人携带此突变,我们认为 T6253C 是导致该患者发病的致病突变。结论这是首例关于细胞色素 C 氧化酶1基因点突变导致线粒体脑肌病伴有高乳酸血症和卒中样发作综合征的报道。
文摘As compared with normal cells, cancer cells or malignant cells were morphologically abnor-mal : their contact inhibition and normal growth order were lost, the DNA content and ploid increased and suchkind of cells were transplantable. It the malignancy should be decreased or the malignant cells reversed, theabove abnormal changes could be reduced or disappear. BALB/c mice bearing ascites liver cancer wereused, Chinese herbal prescription combined with copper and ferrum (CHPCCF) was given by gavage for 10days, and then some cell-biological parameters were measured; further , the ascites cancer cells (controland treatment) were removed and retransptanted to another mice and observed. The results showed that inCHPCCF treatment group, DNA content of the cancer cells was decreased, and the proliferation index wasreduced (control : 83 . 4 ± 2 . 6, CHPCCF group : 78. 8 ± 1 . 5 ; or control : 67. 2 ± 1 . 3 , CHPCCF group : 64. 2 ±l . 6, P < 0. 02) , the number of the cancer cells in Gl phase increased obviously, but, those of S + G2Mphases decreased ( P < 0. 05 ￣ 0. 01 ) ; on the DNA histogram, the diploid peak became higher and bigger,but aneuploid or multiploid peaks became smaller. Furthermore, retransplanted experiments showed that in2/10 animals, the tumors did not grow, and in other 8/10 animals , the tumors grew, but the tumors' sizewere smaller than that of the control ; the growth inhibition rate was 71 . 7% ￣ 88. 3% ; and tumors ' grewslowly ; the growth curve of the tumors in CHPCCF group was considerably lower than that of the control ; thesurvival period of retransplanted animals was prolonged significantly (from 26. 1 ± 11 . 8 to 38. 1 ± 9. 6, or to39 . 6 ± 7 . 2 days, P<0 . 01 ); the increase in life span was 46% and 52% respectively. The results suggestedthat CHPCCF could reduce the malignancy of mice liver cancer cells.
