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Abstract
Tight junctions (TJs) are essential components of eukaryotic cells, and serve as paracellular barriers and zippers between adjacent tissues. TJs are critical for normal functioning of the organ of Corti, a part of the inner ear that causes loss of sensorineural hearing when damaged. To investigate the relation between genes involved in TJ function and hereditary loss of sensorineural hearing in the Korean population, we selected the TJP2 and CLDN14 genes as candidates for gene screening of 135 Korean individuals. The TJP2 gene, mutation of which causes autosomal dominant non-syndromic hearing loss (ADNSHL), lies at the DFNA51 locus on chromosome 9. The CLDN14 gene, mutation of which causes autosomal recessive non-syndromic hearing loss (ARNSHL), lies at the DFNB29 locus on chromosome 21. In the present study, we conducted genetic analyses of the TJP2 and CLDN14 genes in 87 unrelated patients with ADNSHL and 48 unrelated patients with either ARNSHL or potentially sporadic hearing loss. We identified two pathogenic variations, c.334G>A (p.A112T) and c.3562A>G (p.T1188A), and ten single nucleotide polymorphisms (SNPs) in the TJP2 gene. We found eight non-pathogenic variations in the CLDN14 gene. These findings indicate that, whereas mutation of the TJP2 gene might cause ADNSHL, CLDN14 is not a major causative gene for ARNSHL in the Korean population studied. Our findings may improve the understanding of the genetic cause of non-syndromic hearing loss in the Korean population.
Highlights
The organization of eukaryotic cells is established by several junctional proteins that effectively compartmentalize internal multicellular environments that need to operate as specialized functional units
It is known as the ZO2 gene, given that it encodes the zonula occludens protein 2 (ZO2) that belongs to the family of membrane-associated guanylate kinase (MAGUK) homologs [9]
In order to examine the relation between the variations in genes coding for tight junctions (TJs) proteins and genetic causes of autosomal dominant non-syndromic hearing loss (ADNSHL) and autosomal recessive non-syndromic hearing loss (ARNSHL) in the Korean population, we selected the TJP2 and CLDN14 genes, and screened all their exons and exon-intron boundaries
Summary
The organization of eukaryotic cells is established by several junctional proteins that effectively compartmentalize internal multicellular environments that need to operate as specialized functional units. The TJP2 gene, which is located on the long arm of chromosome 9, contains 25 exons and 1,190 amino acids. It is known as the ZO2 gene, given that it encodes the zonula occludens protein 2 (ZO2) that belongs to the family of membrane-associated guanylate kinase (MAGUK) homologs [9]. The ZO2 protein might regulate cell differentiation, transformation, and proliferation [14]. This gene is expressed at high levels in membrane-attaching hair cells and supporting cells within the organ of Corti [8]. TJP2 is associated with familial hypercholanemia, a disease characterized by the malabsorption of fats, itching, and increased levels of bile acid in serum [15]
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