Alzheimer's - Dementia, Author Interviews, Nature / 05.12.2013
Alzheimer’s Disease: Connection with Rare Childhood Disorder
MedicalResearch.com Interview with:
Alessandra d’Azzo PhD
Department of Genetics, St Jude Children’s Research Hospital
262 Danny Thomas Place, Memphis, Tennessee 38105
MedicalResearch.com: What are the main findings of the study?
Dr. d’Azzo: We have discovered a connection between a rare childhood disorder and Alzheimer’s disease that usually affects older people.
The culprit is a metabolic enzyme called NEU1 that normally controls the recycling or disposal of proteins in a specific cell compartment, the lysosome.
When NEU1 is defective, children develop the severe metabolic disease, sialidosis.
Our study suggests that NEU1 also plays an important role in the development of Alzheimer’s disease. Based on this discovery, we decided to increase NEU1 enzyme activity in the brain of an Alzheimer’s disease mouse model that shows features characteristic of the human disease, namely the accumulation of toxic protein aggregates or plaques. Remarkably, we could significantly diminish the number of plaques in the brain of these mice by increasing NEU1 enzyme activity.






















