6展望 在胚胎发育的早期,细胞缝隙连接蛋白就开始表达,且这种表达受时空调节,一种缝隙连接蛋白表达的同时,另一种缝隙连接蛋白的表达可能正在关闭,这种现象在胚胎发育过程中很常见。出生后,每种组织或细胞表达的缝隙连接蛋白的种类和量基本稳定不变,细胞缝隙连接蛋白在细胞新陈代谢、生长、分化以及细胞内环境稳定中起重要的调节作用[22,23] 。体内外试验证明,许多促癌剂下调缝隙连接蛋白表达,激活的癌基因vas,vmos,neu,src,同样也降低缝隙连接蛋白在细胞中的表达,乳腺癌、肾癌、胃癌和恶性肉瘤组织均有缝隙连接蛋白表达下调或缺失,缝隙连接蛋白与肿瘤的发生密切相关,因此,缝隙连接蛋白基因被称为第二类抑瘤基因[24]。 缝隙连接蛋白与遗传性白内障的关系是近年来才发现的,无论是动物实验还是人类家系研究,都表明连接蛋白对维持晶状体的正常功能是不可缺少的。进一步深入研究连接蛋白的基因定位及其突变体的性质,将为遗传性白内障的病因研究、基因诊断和基因治疗提供新的途径。
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