Poster Session

[1PA-46] Mechanism of RNA Protein Aggregate Formation as a Cause of Triplet Repeat Disease

*Surachada Chuaychob^1,2, Wanqing Hou¹, Musashi Shimizu¹, Shun Nakano¹, Arivazhagan Rajendran¹, Eiji Nakata¹, Takashi Morii¹ (1. Institute of Advanced Energy, Kyoto University, 2. Integrated Research Center for Carbon Negative Science, Institute of Advanced Energy, Kyoto University)

Keywords:

Triplet Repeat Disease,RNA,Protein,Aggregate,DNA origami

Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy caused by expansions of CTG repeats. These repeats interfere with normal mRNAs by titrating the Muscleblind-like RNA binding protein 1 (MBNL1), leading to the formation of RNA-protein (RNP) aggregates. However, the chemical nature and mechanism behind their aggregation are still unclear. To address this, we designed an in vitro system using DNA origami to create RNP aggregates from RNA molecules with over 1000 CUG repeats and MBNL1 proteins. High-speed AFM measurement was used to analyze the aggregates and provide mechanistic insights into their formation.