News Releases & Research Results “G4-RNA structure” that promotes prionoid - Novel therapeutic target for neurodegenerative diseases -

The results of research conducted by Independent Associate Professor Norifumi Shioda, Assistant Professor Yasushi Yabuki, and Researcher Sefan Asamitsu of the Institute of Molecular Embryology and Genetics, Kumamoto University.

• Special RNA structure “guanine quadruplex structure (G4),” formed from the abnormal repeat sequence in the causative gene of hereditary neurological disease “fragile X-associated tremor/ataxia syndrome (FXTAS),” designated as an intractable disease in Japan, was found to be involved in the onset of FXTAS. Then, “5-aminolevulinic acid” was demonstrated to be effective in treating neuropathy.
• As the pathogenic mechanism “G4 prionoid” may be shared by Alzheimer's and Parkinson's diseases, as well as FXTAS, “5-aminolevulinic acid” should be more widely applied as a therapeutic agent.

This project was conducted with the support of the Practical Research Project for Rare/Intractable Diseases by AMED.

The results were published in the scientific journal Science Advances, published by the American Association for the Advancement of Science, on January 14.

Asamitsu S., et al. CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome Science Advances
DOI: 10.1126/sciadv.abd9440