Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region

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.