title: Mutation analysis of the ferritin L-chain gene in age-related cataract.
abstract: OBJECTIVE
  To investigate whether acquired somatic mutations in the iron response element of the ferritin L-chain gene account for the age-related cataract.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Nurit
authors.initials: N
authors.lastname: Assia
authors.forename: Nitza
authors.initials: N
authors.lastname: Goldenberg-Cohen
authors.forename: Gideon
authors.initials: G
authors.lastname: Rechavi
authors.forename: Ninette
authors.initials: N
authors.lastname: Amariglio
authors.forename: Yoram
authors.initials: Y
authors.lastname: Cohen
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D000368:Aged; D000369:Aged, 80 and over; D000375:Aging / Q000235:genetics*; D001052:Apoferritins / Q000235:genetics*; D001483:Base Sequence; D001681:Biological Assay; D002386:Cataract / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics; D015203:Reproducibility of Results
chemical_list: D020121:5' Untranslated Regions; C507433:FTL protein, human; D001052:Apoferritins