Soung Young Hwa, Lee Jong Woo, Kim Su Young, Nam Suk Woo, Park Won Sang, Lee Jung Young, Yoo Nam Jin, Lee Sug Hyung
Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-gu, Seoul 137-701, Republic of Korea.
Pathol Res Pract. 2006;202(3):137-40. doi: 10.1016/j.prp.2005.12.003. Epub 2006 Jan 31.
Genetic alterations of the genes encoding protein kinases have been implicated in the development of human cancers. Myosin light chain kinase 2, skeletal muscle (MYLK2) encodes a calcium/calmodulin-dependent serine/threonine kinase. In a recent study, MYLK2 gene was somatically mutated in colorectal carcinomas. The aim of this study was to explore the possibility that other common human carcinomas besides colorectal carcinomas harbored MYLK2 mutations in the kinase domain. We analyzed exons 6 and 7 eccoding the kinase domain of MYLK2 for somatic mutations in 60 gastric, 104 colorectal, 79 non-small cell lung, and 54 breast cancers using a polymerase chain reaction (PCR)-based single-strand conformation polymorphism (SSCP). We found one MYLK2 mutation in lung adenocarcinomas, but not in other cancers. The MYLK2 mutation detected was a missense mutation that would substitute an amino acid (E374D) However, there was no somatic mutation of the MYLK2 gene. These data suggest that the kinase domain of MYLK2 is rarely mutated in common human carcinomas and that it does not play a dominant role in cancer pathogenesis.
编码蛋白激酶的基因发生遗传改变与人类癌症的发生有关。肌球蛋白轻链激酶2，骨骼肌（MYLK2）编码一种钙/钙调蛋白依赖性丝氨酸/苏氨酸激酶。在最近的一项研究中，MYLK2基因在结肠直肠癌中发生了体细胞突变。本研究的目的是探讨除结肠直肠癌外，其他常见人类癌症在激酶结构域中存在MYLK2突变的可能性。我们使用基于聚合酶链反应（PCR）的单链构象多态性（SSCP）分析了60例胃癌、104例结肠直肠癌、79例非小细胞肺癌和54例乳腺癌中MYLK2激酶结构域编码的外显子6和7的体细胞突变。我们在肺腺癌中发现了1例MYLK2突变，而在其他癌症中未发现。检测到的MYLK2突变是一个错义突变，会替换一个氨基酸（E374D）。然而，MYLK2基因没有体细胞突变。这些数据表明，MYLK2的激酶结构域在常见人类癌症中很少发生突变，并且在癌症发病机制中不发挥主导作用。
