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Kidney Week

Abstract: PO1600

The Knockdown of RPL36A Downregulates GLA Expression Associated with Fabry Disease In Vitro Model

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Al-Obaide, Mohammed A., Texas Tech University Health Sciences Center, School of Medicine, Amarillo, Texas, United States

Mutations in the galactosidase alpha (GLA) locus can cause Fabry disease. The GLA locus is mapped in the reverse strand of the RPL36A-HNRNPH2 readthrough locus. The study aimed to show the influence of the siRNA downregulation of the RPL36A expression (the first gene in the RPL36A-HNRNPH2 locus) on the GLA expression.


The siRNA method was used to downregulate the expression of RPL36A in HEK293 cells. The expression of the two genes RPL36A and GLA in vitro was analyzed by RT qPCR. The protein products of the two genes were analyzed by ELISA and Western blot.


The RT qPCR results of the RPL36A knockdown by siRNA showed a significant decrease not only for RPL36A expression but also for GLA expression (p<0.05) compared with the results of the untreated HEK293 cells. ELISA and Western blot assays showed a decrease in the GLA protein following knockdown of the RPL36A gene, but the two assays did not show a decrease in the expression for RPL36A protein. Alignment analysis by EMBOSS Matcher showed RPL36A protein amino acid sequence (Length: 106, Mass (Da): 12,441) is 99.1% like RPL36AL protein amino acid sequence (Length: 106, Mass (Da):12,469). Intriguingly, the sequence of mRNA transcripts of both genes showed an 85.3% similarity. The designed siRNA was specific to RPL36A transcript NM_021029.6 and not to RPL36AL transcript NM_001001.5, which may explain the RT qPCR results.


The data provided evidence that malfunction in the expression of the RPL36A locus located at the start of the RPL36A-HNRNPH2 readthrough locus can cause an error in the expression of GLA. These findings revealed the importance of the RPL36A-HNRNPH2 readthrough region in Fabry disease. The work was supported by Sanofi-Genzyme Project GZ-2017-11708.


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