唾液腺腺样囊性癌中的线粒体突变。
Mitochondrial mutations in adenoid cystic carcinoma of the salivary glands.
机构信息
Department of Surgery, Division of Plastic and Reconstructive Surgery, Johns Hopkins Medical Institutions, Baltimore, Maryland, United States of America.
出版信息
PLoS One. 2009 Dec 30;4(12):e8493. doi: 10.1371/journal.pone.0008493.
BACKGROUND
The MitoChip v2.0 resequencing array is an array-based technique allowing for accurate and complete sequencing of the mitochondrial genome. No studies have investigated mitochondrial mutation in salivary gland adenoid cystic carcinomas.
METHODOLOGY
The entire mitochondrial genome of 22 salivary gland adenoid cystic carcinomas (ACC) of salivary glands and matched leukocyte DNA was sequenced to determine the frequency and distribution of mitochondrial mutations in ACC tumors.
PRINCIPAL FINDINGS
Seventeen of 22 ACCs (77%) carried mitochondrial mutations, ranging in number from 1 to 37 mutations. A disproportionate number of mutations occurred in the D-loop. Twelve of 17 tumors (70.6%) carried mutations resulting in amino acid changes of translated proteins. Nine of 17 tumors (52.9%) with a mutation carried an amino acid changing mutation in the nicotinamide adenine dinucleotide dehydrogenase (NADH) complex.
CONCLUSIONS/SIGNIFICANCE: Mitochondrial mutation is frequent in salivary ACCs. The high incidence of amino acid changing mutations implicates alterations in aerobic respiration in ACC carcinogenesis. D-loop mutations are of unclear significance, but may be associated with alterations in transcription or replication.
背景
MitoChip v2.0 重测序芯片是一种基于阵列的技术，可实现线粒体基因组的准确和完整测序。目前尚无研究调查唾液腺腺样囊性癌中的线粒体突变。
方法
对 22 例唾液腺腺样囊性癌（ACC）的整个线粒体基因组和配对白细胞 DNA 进行测序，以确定 ACC 肿瘤中线粒体突变的频率和分布。
主要发现
22 例 ACC 中有 17 例（77%）携带线粒体突变，突变数量从 1 个到 37 个不等。D 环中发生了不成比例数量的突变。17 例肿瘤中有 12 例（70.6%）携带导致翻译蛋白氨基酸变化的突变。17 例肿瘤中有 9 例（52.9%）携带突变，这些突变使烟酰胺腺嘌呤二核苷酸脱氢酶（NADH）复合物中的一个氨基酸发生变化。
结论/意义：线粒体突变在唾液腺 ACC 中很常见。翻译蛋白中氨基酸变化突变的高发生率表明有氧呼吸的改变与 ACC 的发生有关。D 环突变的意义尚不清楚，但可能与转录或复制的改变有关。
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