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Study suggests genetic component to cortical cataract development
PLoS Genet. 2009;5(7):e1000584.
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Intentional deletions of the coding for the Eph receptor A2 gene in knockout mice led to the development of cortical cataracts, and missense mutations in the Epha2 gene in three separate Caucasian population databases appears to confirm the importance of the protein EPHA2 in maintaining the clarity of the crystalline lens, according to a study.
Data from both phases of the study should underscore the importance of genetic triggers in the development of cortical cataracts, the study said.
Mice that were generated with a secretory gene trapping strategy that eliminated the Epha2 gene developed visible bilateral lens opacity as early as 5 months of age, which was confirmed by slit lamp examination, according to the study. More than 80% of knockout mice generated from two distinct lineages developed cortical cataract by 12 months.
However, as soon as 1 month after birth, "retroillumination examination revealed clusters of subcapsular vacuoles in the anterior cortex of the Epha2 knockout but not in the heterozygous or wild-type lenses, which are indicative of structural and osmotic alterations of the lens," the study said.
In a second phase of the study that used three separate genetic databases from three independent Caucasian populations, researchers noted common polymorphisms that altered the function of EPHA2 kinase activities and cellular functions.