Towards treatment of a rare neurodegenerative disease

18 March 2019

Chinese University of Hong Kong (CUHK) scientists have pinpointed a compound with potential for therapeutic use in the treatment of some neurodegenerative diseases that are currently incurable.

Life scientist Professor H.Y. Edwin Chan (Croucher Scholarship 1996) and his research team have demonstrated that a small molecule compound can interfere with the pathological mechanism of polyglutamine (polyQ) diseases, a group of rare neurodegenerative disorders characterised as protein aggregation diseases. Chan is a specialist in pathogenic pathways of rare neuronal diseases,

PolyQ diseases cause the progressive death of nerve cells in the cerebellum of the human brain, leading to an inability to control arm and leg muscles, lack of balance and coordination of gait, and slurred speech. At present, there is no remedy.

Anti-polyQ Aggregation for Machado-Joseph-Associated Neurodegeneration (AQAMAN) is a small molecule originally synthesised by the Zimmerman group at the University of Illinois at Urbana-Champaign, US, to target muscular dystrophies. Chan is a long-time collaborator of Professor Steven C. Zimmerman and his team, working closely with the US expert in synthetic chemistry to screen for drug candidates targeting rare diseases.

After adding AQAMAN, the polyQ protein aggregations are restored to normal protein.

Following the synthesis of AQAMAN, the CUHK researchers unexpectedly found the compound could interfere with toxic polyQ protein aggregate formation as well as promote its deaggregation. The research findings have been published in the Journal of Biological Chemistry.

Chan noted that AQAMAN was just one among many bisamidine-based inhibitors being studied in relation to inhibiting RNA-protein complexes in muscular dystrophies and it was “totally out of our expectation” that it would be capable of interfering with toxic protein aggregation.

He added that the CUHK team was now looking to collaborate with pharmaceutical partners to explore further development of AQAMAN and therapeutic avenues to “bring hope to the sufferers of polyQ disorders”.


Professor H.Y. Edwin Chan (Croucher Scholarship 1996)

Professor H.Y. Edwin Chan is a professor in the School of Life Sciences, Chinese University of Hong Kong (CUHK). He received his undergraduate training in biochemistry from CUHK, doctoral training at the University of Cambridge with the support of a Croucher Scholarship in 1996, and postdoctoral training at the University of Pennsylvania. Since 1999, he has been investigating the pathogenic pathways of rare neuronal diseases. His contribution to the field has led to honours including the CUHK Young Researcher Award and Genetics Society of China 13th Ju-Chi Li Animal Genetics Prize. He is a Founding Member and Executive Committee member of the Young Academy of Sciences of Hong Kong and advisor to the Hong Kong Spinocerebellar Ataxia Association and Hong Kong Alliance for Rare Diseases.


To view Professor Chan’s Croucher profile, please click here.