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2016 New Investigator Research Grant (NIRG)

Investigating a Frameshift Deletion in ABCA7 of African Origin Using iPSC

Does a certain variation in the ABCA7 gene increase the risk Alzheimer’s disease in African Americans?

Holly Cukier, Ph.D.
University of Miami
Coral Gables, FL - United States


An important focus of Alzheimer’s research is discovering the genetic factors that may increase risk for developing the disease. Studies suggest that African Americans are about twice as likely to have Alzheimer’s and other dementias as non-Hispanic whites. More research is needed to better understand this increased risk, but certain unique genetic differences may play a role.

One gene, called ABCA7 (ATP-binding cassette, sub-family A, member 7) has been associated with Alzheimer’s disease risk. This gene codes for a protein involved in the production of beta-amyloid, a protein fragment that can accumulate into amyloid plaques, a hallmark of Alzheimer’s. Dr. Holly Cukier, Ph.D. has identified a certain section of the ABCA7 gene that when missing, may be associated with a higher incidence of Alzheimer’s in African Americans.

Research Plan

Dr. Cukier and her team will use “induced pluripotent stem cells” (iPSCs) to study the function of the ABCA7 gene. iPSCs can be made from skin or blood cells and then “reprogrammed” to behave like nerve cells. The iPSCs contain all of the genetic information specific to that individual. The researchers will examine iPSCs from African Americans with and without Alzheimer’s to determine if the ABCA7 genetic deletion is present. The research team will then use genetic editing tools to (1) recreate the deletion in the healthy nerve cells and (2) restore the missing piece of the ABCA7 gene in nerve cells that initially had the deletion. They will measure the health and function of nerve cells with and without the deletion. They will also measure the levels of beta-amyloid and abnormal tau protein to determine how the deletion impacts brain changes associated with Alzheimer’s disease.


If successful, the results of this research could provide insights related to a population-specific risk factor for Alzheimer’s disease. Identifying the consequences of the ABCA7 deletion will also help determine whether this gene, or the protein made from this gene, is a potential therapeutic target for treating Alzheimer’s disease.

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