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. 2011 Feb 26:17:621-6.

Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study

Zhou Zhou  1 , Binbin Wang, Shanshan Hu, Chunmei Zhang, Xu Ma, Yanhua Qi
Affiliations

Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study

Zhou Zhou et al. Mol Vis. .

Abstract

Purpose: To investigate the role of genetic variations in three known cataract-associated genes, gap junction protein α3 (GJA3), gap junction protein α8 (GJA8), lens intrinsic membrane protein 2 (LIM2), encoding lens fiber cell membrane proteins in the development of age-related cataracts.

Methods: One hundred and forty-five sporadic age-related cataract patients and one hundred and fifty-six unrelated random healthy controls participated in this study. Genomic DNA was extracted from peripheral blood leukocytes. All exons of GJA3, GJA8, and LIM2 were sequenced after being amplified by polymerase chain reaction (PCR). The functional consequences of the mutations were analyzed using PolyPhen.

Results: We found five novel variations in 145 patients and none of them presented in the 156 controls. There are two variations in GJA3 (c.-39C>G, c. 415G>A); one in GJA8 (c. 823G>A), and two in LIM2 (c.57G>A, c.67A>C). PolyPhen predicted that the LIM2 c.67A>C mutation may have potential pathogenicity.

Conclusions: The genetic mutation in GJA3, GJA8, and LIM2 may slightly contribute to the development of age-related cataracts. This study showed a potential relationship between lens fiber cell membrane protein genes and the development of age-related cataracts in the Chinese population.

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Figures

Figure 1
Figure 1
The sequence chromatograms (forward strand). A: The variations (c.-39C>G, c.415G>A) we found in gap junction protein α3 (GJA3). B: A mutation (c.823G>A) in gap junction protein α8 (GJA8). C: Two variations (c.57G>A, c.67A>C) in lens intrinsic membrane protein 2 (LIM2).
Figure 2
Figure 2
Cross species conservation analysis. The black bars highlight the interesting positions of the proteins. A: Multiple alignment indicates that valine at position 139 in gap junction protein α3 (GJA3) is medium conserved. B: Valine at codon 275 in gap junction protein α8 (GJA8) is highly conserved. C: At lens intrinsic membrane protein 2 (LIM2) position 23, methionine was not a conserved amino acid residue compared to threonine.
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