机构：[1]Key Laboratory of Otolaryngology Head and Neck Surgery, Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, No. 1, Dong Jiao Min Xiang, Eastern District Beijing, Beijing 100730, China临床科室耳鼻咽喉-头颈外科首都医科大学附属北京同仁医院首都医科大学附属同仁医院[2]Department Otolaryngology-Head and Neck Surgery, Beijing Fuxing Hospital, Capital Medical University, Beijing 100730, China[3]Department Otolaryngology-Head and Neck Surgery, Fuxing Hospital, Capital Medical University, No. 20, Fuxingmenwai Avenue A, Xicheng District, Beijing 100038, China
The effects of D-loop mutations and the mtDNA copy number alterations in LSCC are poorly understood. Herein, we investigated the features and roles of somatic mutations of the D-loop region and copy number alterations in mtDNA of LSCC. Using direct sequencing and real-time quantitative PCR, we examined D-loop mutations and mtDNA copy number in LSCC tissues, paracancerous normal tissues and peripheral vein blood samples from 40 LSCC patients. A student's t test, ANOVA test and chi(2) test were used to analyze association among mutations, mtDNA copy number alterations with clinicopathologic parameters. The results revealed that 21 tumors (52.5 %) had somatic mtDNA D-loop mutations with a total of 34 mutations. Among them, 28 (82.4 %) and 6 (17.6 %) were located in HVII and HVI, respectively. D-loop mutations correlated with tumor differentiation and p53 mutation (P < 0.05), and increased mtDNA copy number. In addition, mtDNA copy number in tumor tissues and paracancerous normal tissues were all significantly higher than in peripheral blood (P < 0.05). The copy number of mtDNA in the cases which carried D-loop mutation was significantly higher than that of the negative cases (P < 0.05). These results suggest that the mtDNA D-loop in LSCC is an unstable region with a high frequency of somatic mutation and polymorphisms. Together with the increase in mtDNA copy number, these factors may play a role in carcinogenesis of the larynx.
基金：
National Science Foundation to Z.H. (#30973293); a Grant from
Capital Development Fund for medical research to Z.H (#2007–2065).
第一作者机构：[1]Key Laboratory of Otolaryngology Head and Neck Surgery, Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, No. 1, Dong Jiao Min Xiang, Eastern District Beijing, Beijing 100730, China
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通讯作者：
推荐引用方式(GB/T 7714)：
Guo Wei,Yang Denghua,Xu Hongbo,et al.Mutations in the D-loop region and increased copy number of mitochondrial DNA in human laryngeal squamous cell carcinoma[J].MOLECULAR BIOLOGY REPORTS.2013,40(1):13-20.doi:10.1007/s11033-012-1939-7.
APA：
Guo, Wei,Yang, Denghua,Xu, Hongbo,Zhang, Yang,Huang, Junwei...&Huang, Zhigang.(2013).Mutations in the D-loop region and increased copy number of mitochondrial DNA in human laryngeal squamous cell carcinoma.MOLECULAR BIOLOGY REPORTS,40,(1)
MLA：
Guo, Wei,et al."Mutations in the D-loop region and increased copy number of mitochondrial DNA in human laryngeal squamous cell carcinoma".MOLECULAR BIOLOGY REPORTS 40..1(2013):13-20
