Scientists Uncover Alzheimer’s Genetic Defenses

Unraveling Alzheimer’s Defenses: Global Team Pinpoints Powerful Genetic Protector

A collaborative international team, led by the Hong Kong University of Science and Technology (HKUST), has unearthed a monumental genetic guardian against Alzheimer’s disease (AD), potentially reshaping our understanding and treatment of this debilitating neurodegenerative disorder.

AD, which affects over 50 million people worldwide, has remained notoriously challenging to treat due to its complex pathological mechanisms and limited drug targets. Recent years have seen growing interest in the SORL1 gene, encoding a protein crucial for regulating amyloid-beta, a toxic protein implicated in AD pathology. While studies hinted at protective SORL1 variants in Europeans, their role across other ethnic groups remained unclear.

Now, under the helm of Prof. Nancy Ip, President and Morningside Professor of Life Science at HKUST, an interdisciplinary team conducted a comprehensive genetic analysis spanning East Asian (Chinese and Japanese) and European populations. Their findings, published in Alzheimer’s & Dementia and highlighted on Alzforum, reveal a game-changing genetic variant: Hap_A of SORL1.

This variant stands as a formidable AD protector, with an astonishing prevalence 168 times higher in East Asians than in Europeans. Carriers of Hap_A exhibited better cognitive function, reduced neurodegeneration, and milder AD symptoms. "This study deepens our understanding of SORL1’s role in AD and opens new avenues for therapeutic exploration," said Prof. Ip.

HKUST’s research, supported by the National Natural Science Foundation of China and Hong Kong’s Research Grants Council, underscores the critical need for diverse, global collaboration in unraveling AD’s genetic intricacies.