Analysis of mitochondrial DNA mutations in D-loop region in thyroid lesions

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• 作者：Zhinan Ding ; Jingzhang Ji ; Guorong Chen ; Hezhi Fang ; Shihui Yan ; Lijun Shen ; Jia Wei ; Kaiyan Yang ; Jianxin Lu ; Yidong Bai
• 关键词：Mitochondrial DNA mutation ; Mitochondrial microsatellite instability ; D-loop region ; Thyroid ; Tumor progression
• 刊名：Biochimica et Biophysica Acta (BBA)/General Subjects
• 出版年：2010
• 出版时间：March 2010
• 年：2010
• 卷：1800
• 期：3
• 页码：271-274
• 全文大小：530 K

文摘

Background

Mitochondrial defects have been associated with various human conditions including cancers.

Methods

We analyzed the mutations at the mitochondrial DNA (mtDNA) in patients with different thyroid lesions. In particular, in order to investigate if the accumulation of mtDNA mutations play a role in tumor progression, we studied the highly variable main control region of mtDNA, the displacement-loop (D-loop) in patients with non-tumor nodular goiters, with benign thyroid adenomas, and with malignant thyroid carcinomas. Total thyroid tumor or goiter samples were obtained from 101 patients, matched with nearby normal tissue and blood from the same subject.

Results

Noticeably, mitochondrial microsatellite instability (mtMSI) was detected in 2 of 19 nodular goiters (10.53 % ), and 8 of 77 (10.39 % ) malignant thyroid carcinomas. In addition, 6 patients, including 5 (6.49 % ) with malignant thyroid carcinomas and 1 (5.26 % ) with nodular goiter, were found to harbor point mutations. The majority of the mutations detected were heteroplasmic.

General significance

Our results indicate that mtDNA alterations in the D-loop region could happen before tumorigenesis in thyroid, and they might also accumulate during tumorigenesis.