Expression of gap junctional proteins Cx37 mRNA in cerebral arterial endothelium induced by soluble eggs antigen of Schistosome / 中国地方病学杂志

Objective To explore the effects of gap junctional(GJ)proteins in pathogenesis of cerebral schistosomiasis, through observing the expression of gap junctional proteins Cx37 mRNA in cultured cerebral arterial endothelium incubated with soluble eggs antigen(SEA). MethodsCerebral artery endothelial cells of rabbits were incubated with SEA, and the experiments were divided into control group and SEA 1 - 5 groups (SEA concentrations were 10.0％ ,5.0％ ,3.3％ ,2.5％,2.0％, respectively), reverse transcription polymerase chain reaction (RT-PCR) and Western blotting were used to examine the expression of Cx37 mRNA and protein in cerebral artery endothelial cells of rabbits, respectively. Results Cx37 mRNA levels of control and SEA 1 - 5 groups were 0.239 ± 0.037, 0.260 ± 0.043, 0.218 ± 0.310, 0.647 ± 0.040, 0.419 ± 0.036, and 0.513 ± 0.038, respectively;SEA 3 - 5 groups were higher than control group of mRNA levels(all P＜ 0.05). Cx37 protein levels of control and SEA 1 - 5 group were 0.401 ± 0.045, 0.485 ± 0.048, 0.749 ± 0.052, 1.119 ± 0.063, 1.015 ± 0.057 and 0.605 ±0.047, respectively, of which SEA 2 - 5 groups were higher than control group(all P ＜ 0.05). ConclusionsExpression levels of Cx37 mRNA and protein in cultured cerebral artery endothelial cells incubated with SEA are higher than those of control cerebral artery endothelial cells, which suggests that the gap junction proteins may play an important role in pathogenesis of cerebral schistosomiasis through SEA and its secretion in infiltration of brain tissue and deposition in the cerebral arteries.

Connexin 26 and autosomal recessive non-syndromic hearing loss.

Prelingual deafness occurs with a frequency of 1 in 1000 live births and is divided into syndromic and non-syndromic forms contributing 40 and 60% respectively. Autosomal recessive non-syndromic hearing loss (ARNSHL) is responsible for 80% cases of childhood deafness. Nearly all genes localized for ARNSHL cause prelingual, severe to profound, sensorineural hearing impairment. ARNSHL is genetically heterogeneous and at least 39 loci have been identified. The most significant finding to date has been the discovery of mutations in GJB2 gene at the DFNB1 locus on chromosome 13q12 as the major cause of profound prelingual deafness. This was first reported in a Tunisian family in 1994 and thereafter in many different countries. GJB2 gene encodes the gap-junction protein, connexin 26 (Cx26), mutations in which have become the first genetic marker of inherited hearing loss. Allele-specific polymerase chain reaction (AS-PCR), single stranded conformation polymorphism (SSCP) and sequencing methods have been developed for the detection of mutations in Cx26 gene. In India as well, the Cx26 mutations are being screened in families with hearing impaired children using these molecular methods. Therefore, in order to create awareness among the clinicians and the affected families; we have attempted to review the Cx26 gene mutations responsible for autosomal recessive type of non-syndromic hearing loss. The efficacy and utility of Cx26 gene analysis might open the path to proper counseling of families for carrier detection and prenatal diagnosis. It may even facilitate the development of strategies in future for the treatment of this common genetic disorder.