强直性肌营养不良患者的晶状体上皮变化及突变基因表达
Lens epithelial changes and mutated gene expression in patients with myotonic dystrophy.
作者信息
Abe T, Sato M, Kuboki J, Kano T, Tamai M
机构信息
Department of Ophthalmology, Tohoku University School of Medicine, Miyagi, Japan.
出版信息
Br J Ophthalmol. 1999 Apr;83(4):452-7. doi: 10.1136/bjo.83.4.452.
AIMS
Examination of the expression of the mutated allele of myotonic dystrophy protein kinase gene and lens epithelial cell changes in patients with myotonic dystrophy.
METHODS
Six eyes from three patients with myotonic dystrophy underwent cataract surgery. The lens epithelium was photographed to examine the morphological changes. mRNAs were extracted to determine myotonic dystrophy protein kinase gene expression in the lens epithelium and peripheral blood. Age matched lens epithelial cells from senile cataracts were used as controls.
RESULTS
All eyes showed iridescent or posterior subcapsular lens opacity. The expression of the myotonic dystrophy protein kinase gene with trinucleotide repeat expansion was evaluated by reverse transcriptase polymerase chain reaction, Southern blotting, and sequence analysis. Lens epithelial cell densities were extremely reduced in the patients compared with the control group.
CONCLUSION
To the authors' knowledge, this is the first report to describe the relation between lens epithelial cell changes and mutated gene expression in patients with myotonic dystrophy. The gene may be mitotically unstable in the lens epithelial cells; it may influence cell density and lens epithelial function, and it may lead to the development of typical subcapsular lens opacity.
目的
检测强直性肌营养不良蛋白激酶基因突变等位基因的表达以及强直性肌营养不良患者晶状体上皮细胞的变化。
方法
对3例强直性肌营养不良患者的6只眼睛进行白内障手术。拍摄晶状体上皮以检查形态学变化。提取mRNA以确定晶状体上皮和外周血中强直性肌营养不良蛋白激酶基因的表达。将年龄匹配的老年性白内障患者的晶状体上皮细胞用作对照。
结果
所有眼睛均表现为彩虹样或后囊下晶状体混浊。通过逆转录聚合酶链反应、Southern印迹法和序列分析评估三核苷酸重复扩增的强直性肌营养不良蛋白激酶基因的表达。与对照组相比，患者的晶状体上皮细胞密度极度降低。
结论
据作者所知，这是第一份描述强直性肌营养不良患者晶状体上皮细胞变化与突变基因表达之间关系的报告。该基因在晶状体上皮细胞中可能有丝分裂不稳定；它可能影响细胞密度和晶状体上皮功能，并可能导致典型的后囊下晶状体混浊的发生。
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