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

Abstract

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.

• Authors: Nurit Assia, Nitza Goldenberg-Cohen, Gideon Rechavi, Ninette Amariglio, Yoram Cohen
• Journal: Molecular vision (Mol Vis) Vol. 16 Pg. 2487-93 (Nov 24 2010) ISSN: 1090-0535 [Electronic] United States
• PMID: 21139976 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• 5' Untranslated Regions
• FTL protein, human
• Apoferritins

Topics

• 5' Untranslated Regions (genetics)
• Aged
• Aged, 80 and over
• Aging (genetics)
• Apoferritins (genetics)
• Base Sequence
• Biological Assay
• Cataract (genetics)
• DNA Mutational Analysis
• Female
• Humans
• Male
• Middle Aged
• Molecular Sequence Data
• Point Mutation (genetics)
• Reproducibility of Results