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.
Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region / Faniello, M. C.; Di Sanzo, M.; Quaresima, B.; Nisticò, A.; Fregola, A.; Grosso, Michela; Cuda, G.; Costanzo, F.. - In: CLINICAL BIOCHEMISTRY. - ISSN 0009-9120. - STAMPA. - 42:9(2009), pp. 911-914. [10.1016/j.clinbiochem.2009.02.013]
Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region.
GROSSO, MICHELA;
2009
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
