Nonsense read-through therapy for Aport syndrome

2014 Fiscal Year Final Research Report

• Project/Area Number: 25893131
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Kobe University
• Principal Investigator: KANDAI Nozu 神戸大学, 医学部附属病院, 講師 (70362796)
• Co-Investigator(Kenkyū-buntansha): IIJIMA Kazumoto 神戸大学, 大学院医学研究科・内科系講座小児科, 教授 (00240854)
• Co-Investigator(Renkei-kenkyūsha): SHONO Akemi 神戸大学, 大学院医学研究科・内科系講座小児科, 技術補佐員 (10535066)
• Project Period (FY): 2013-08-30 – 2015-03-31
• Keywords: 遺伝性腎疾患 / ナンセンスリードスルー療法

Outline of Final Research Achievements

1. We conducted the genetic analysis for 250 suspected Alport syndrome family members and conducted the genotype-phenotype analysis. 2.From patients urine samples, we collected the urinary sediment cells and cultured those cells, and made the disease specific cell lines for the further experiment. 3.We conducted the immunohistochemical analysis of type IV collagen alpha 5 chain (a5) expression and identified that patients with truncating mutations don't express a5, on the contrary, patients with non-truncating mutations express a5. 4. We designed the antisense-oligonucleotide and tried to lead to exon skipping for some of the specific exons. One of them introduced the exon skipping and possibly lead truncating mutations to non-truncating mutations.

Free Research Field

小児腎臓病学