Project Summary

Qi Shi, Ph.D. (Young Investigator 2003) of Case Western Reserve University, is investigating the mechanisms for dementia-related death of neurons that may result from a genetic defect.  Recent studies indicate that patients with high levels of the amino acid homocysteine have an increased risk of dementia, such as Alzheimer's disease.  A mutation in a gene called MTHFR causes increases in homocysteine in the blood by producing an unhealthy enzyme.  One mutant MTHFR gene, called C677T, has been associated with both increased homocysteine and dementia.  To understand whether and how the allele causes dementia-related death of neurons, Dr. Shi will introduce the human C677T genetic mutation in to a mouse MTHFR gene.  Several relevant factors will be examined in these mice, including, blood homocysteine levels, expression of dementia-related genes, neuronal brain lesions, and alteration of neurotransmitter receptors.

Program Area: OTHER\Dementia

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