Jaehong Suh, Ph.D.

Assistant Professor of Neurology
Massachusetts General Hospital

Funded Research

Project Description Researchers Funding
Role of ATXN1 in Regulating BACE1 Activity

A recent genetic study from our research group revealed that the Ataxin-1 gene (ATXN1) is genetically associated with Alzheimer's disease. ATXN1 encodes a nuclear protein, Ataxin-1, and DNA mutations that increase the CAG trinucleotide repeat in ATXN1 are known to cause spinocerebellar ataxia type 1 (SCA1). SCA1 is a neurodegenerative disease that primarily impairs coordinated movement and later deteriorates the cognitive function of patients. In a preliminary study with mouse models, we found the deletion of ATXN1 elevates BACE1 expression in the brain.