Mutation analysis of the ferritin L-chain gene in age-related cataract

Nurit Assia, Nitza Goldenberg-Cohen, Gideon Rechavi, Ninette Amariglio, Yoram Cohen

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Purpose: 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.

Original languageEnglish
Pages (from-to)2487-2493
Number of pages7
JournalMolecular Vision
StatePublished - 1 Dec 2010
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology


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