title: Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region.
abstract: OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Dipartimento di Medicina Sperimentale e Clinica G. Salvatore, Università di Catanzaro Magna Graecia, 88100 Catanzaro, Italy.
authors.forename: Maria Concetta
authors.initials: MC
authors.lastname: Faniello
authors.forename: Maddalena
authors.initials: M
authors.lastname: Di Sanzo
authors.forename: Barbara
authors.initials: B
authors.lastname: Quaresima
authors.forename: Antonia
authors.initials: A
authors.lastname: Nisticò
authors.forename: Annalisa
authors.initials: A
authors.lastname: Fregola
authors.forename: Michela
authors.initials: M
authors.lastname: Grosso
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cuda
authors.forename: Francesco
authors.initials: F
authors.lastname: Costanzo
mesh_terms: D002386:Cataract / Q000235:genetics*; D005293:Ferritins / Q000235:genetics*; D006367:HeLa Cells; D006801:Humans; D007558:Italy; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics*
chemical_list: D005293:Ferritins