Jie Shen, PhD, of the Center for Neurologic Diseases at BWH, and colleagues have found that two genes linked to familial Alzheimer's disease regulate basic synaptic function and neurotransmitter release in neurons. These findings appear in the July 30, 2009, issue of Nature.
 
Previous research showed that mutations in the presenilin genes are a major cause of early onset, familial cases of Alzheimer's disease, but where and how they regulate neuronal function has remained unclear until now. The researchers used mouse models to show that presenilins function on the synapses between two communicating neurons by regulating neurotransmitter release, thereby affecting learning and memory. These findings suggest that presynaptic dysfunction might be an early cause of dementia in Alzheimer’s disease.

The researchers hope that this new understanding of how neurons are affected by presenilins will ultimately lead to the development of a more effective therapeutic treatment for Alzheimer’s and dementia.

The National Institutes of Health funded this research.