Assia Nurit, Goldenberg-Cohen Nitza, Rechavi Gideon, Amariglio Ninette, Cohen Yoram
Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Mol Vis. 2010 Nov 24;16:2487-93.
To investigate whether acquired somatic mutations in the iron response element of the ferritin L-chain gene account for the age-related cataract.
The 15 most prevalent point mutations causing hereditary hyperferritinemia cataract syndrome (HHCS) were screened in patients with age-related cataract using MALDI-TOF Mass Spectrometry. DNA samples were obtained from the lens capsules of patients following cataract surgery, and subjected to PCR amplification. Products were analyzed by a Sequenom® mass spectrometer, and classified as a mutation or wild type according to molecular weight. For a positive control, L-ferritin G32T mutation detected by direct sequencing in 3 members of an Israeli family known to be affected by HHCS was used.
DNA samples were isolated from the lens capsules of 90 patients, mean age 73.86, and screened for L-ferritin mutations. While the G32T mutation was detected in all 3 positive control cases, all other patients were negative for the 15 mutations.
Somatic mutations in the iron response elements (IRE) of the L-ferritin gene are infrequent in the age-related cataract. The role of L-ferritin genetic variations in the pathogenesis of age-related cataract is yet to be explored.
研究铁蛋白L链基因铁反应元件中的获得性体细胞突变是否与年龄相关性白内障有关。
采用基质辅助激光解吸电离飞行时间质谱法，对年龄相关性白内障患者筛查导致遗传性高铁蛋白血症白内障综合征（HHCS）的15种最常见点突变。白内障手术后从患者晶状体囊膜获取DNA样本，进行PCR扩增。产物通过Sequenom®质谱仪分析，并根据分子量分类为突变型或野生型。阳性对照采用在一个已知受HHCS影响的以色列家族的3名成员中通过直接测序检测到的L-铁蛋白G32T突变。
从90例平均年龄73.86岁患者的晶状体囊膜中分离出DNA样本，筛查L-铁蛋白突变。在所有3例阳性对照病例中均检测到G32T突变，而其他所有患者的15种突变检测结果均为阴性。
L-铁蛋白基因铁反应元件（IRE）中的体细胞突变在年龄相关性白内障中并不常见。L-铁蛋白基因变异在年龄相关性白内障发病机制中的作用尚待探索。
