Pharmacological treatment of oculocutaneous albinism type 1 by read-though effect

2014 Fiscal Year Final Research Report

• Project/Area Number: 25670504
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: Osaka City University
• Principal Investigator: FUKAI KAZUYOSHI 大阪市立大学, 医学(系)研究科(研究院), 准教授 (20244642)
• Co-Investigator(Kenkyū-buntansha): KUNIMOTO Hiroyuki 大阪市立大学, 大学院医学研究科, 助教 (80372853)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: albinism / genetic disorder / aminoglycoside / read-through / nonsense mutation

Outline of Final Research Achievements

We have chosen R116X, W236X, R278X, and R402X mutations because they are the most frequent four nonsense mutations, and in addition we selected Q255X since we assumed that the -1 position of T, and +1 position of C (T-TAG-C) may be favorable for read-through phenomenon.Among the five nonsense TYR nonsense mutations, read-through effect was noted even without aminoglycosides in R116X. This is probably because the nucleotide sequence around the R116X meets the favorable situation reported by Celia et al as below. Especially, the plus 1 position of C (TGA-C) may be essential for the basal read-through because no read-through effect was observed in other four nonsense mutations (W236X, Q255X, R278X, R402X).）In this study, we were not able to find read-through effect of PTC124 with R116X and R278X. This may be in agreement with the fact that the plus 1 position of the R116X and R278X is C and T, respectively.

Free Research Field

皮膚科学