一名受试者在L型铁蛋白启动子区域存在C到A的转换，患有双侧白内障。
Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region.
作者信息
Faniello Maria Concetta, Di Sanzo Maddalena, Quaresima Barbara, Nisticò Antonia, Fregola Annalisa, Grosso Michela, Cuda Giovanni, Costanzo Francesco
机构信息
Dipartimento di Medicina Sperimentale e Clinica G. Salvatore, Università di Catanzaro Magna Graecia, 88100 Catanzaro, Italy.
出版信息
Clin Biochem. 2009 Jun;42(9):911-4. doi: 10.1016/j.clinbiochem.2009.02.013. Epub 2009 Feb 27.
OBJECTIVES
The aim of this study is to evaluate the potential impact of mutations in the promoter region of the L ferritin gene on its transcriptional activity.
DESIGN AND METHODS
To search for the presence of mutations in the promoter of the L gene, we amplified by PCR a DNA region of about 385 n.t. in 100 healthy subjects from Southern Italy.
RESULTS
A subject carrying a C to A transition in position -216 was identified. This transition causes an increased transcriptional activity in vitro. This finding was substantiated by Real Time Quantitative PCR, which showed increased levels of L ferritin mRNA.
CONCLUSIONS
A previously unidentified mutation in the promoter region of the L ferritin gene was detected in an individual. Interestingly, this subject is affected by bilateral cataract, a disease that has been correlated, in a subset of patients, with high levels of circulating ferritin. We hypothesize that changes in the expression of the L ferritin might be linked, at least to a certain extent, to the pathogenesis of this rare eye disease.
目的
本研究旨在评估L铁蛋白基因启动子区域突变对其转录活性的潜在影响。
设计与方法
为了寻找L基因启动子中突变的存在，我们通过PCR扩增了来自意大利南部100名健康受试者约385个核苷酸的DNA区域。
结果
鉴定出一名在-216位存在C到A转换的受试者。这种转换导致体外转录活性增加。实时定量PCR证实了这一发现，其显示L铁蛋白mRNA水平升高。
结论
在一名个体中检测到L铁蛋白基因启动子区域先前未识别的突变。有趣的是，该受试者患有双侧白内障，在一部分患者中，这种疾病与循环铁蛋白水平升高相关。我们推测L铁蛋白表达的变化可能至少在一定程度上与这种罕见眼病的发病机制有关。
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