Researchers discover genetic variants that increase Alzheimer's risk

STRATEGIES AND DRUGS TO FIGHT ALZHEIMER’S. >> BOSTON UNIVERSITY SCHOOL OF MEDICINE RESEARCHERS HAVE IDENTIFIED WHAT YOU MIGHT CALL THE BRAIN FOG GENE IN IT’S ONSET. IN THEIR PICTURE GRAY CLOUDINESS DEPICTS MEMORY LOSS CELLS AS ALZHEIMER DISEASE SETS IN. IT’S THE APOE4 GENE. LIPIDS, FATTY INFLAMMATION COMMON IS THE DEMENTIA AND ALZHEIMER’S PATIENT BRAINS. >> NEARLY 40%, ROUGHLY 40% CARRIES THE RISK GENE. WE PUT APOE4 GENE INTO THE MOUSE. >> RESEARCHERS THEN DID ADVANCE TESTING ON HUMAN BRAIN CELLS AND DISCOVERED THE GENE IS THE MOST PREVALENT EARLY ALZHEIMER’S RISK FACTOR. EARLY TREATMENT, THE GOAL. >> THAT’S A BIG FINDING. WE ARE NOT LOOKING AT THE END STAGE, WE ARE LOOKING AT VERY EARLY STAGE SPECIFIC TO HUMANS. >> HOW SOON MIGHT THIS MEDICATION BE AVAILABLE? >> THAT IS THE MILLION-DOLLAR QUESTION THAT WE NEED TO FIGURE OUT. THERE ARE OTHER DRUG TRIALS GOING ON AND DRUGS COULD BE REPURPOSED FOR ALZHEIMER’S DISEASE. >> A SIMPLE SALIVA SAMPLE COULD PROVIDE THAT GENETIC SCREENING NEEDED TO KNOW IF YOU HAVE THE

Researchers at Boston University on Thursday announced a breakthrough discovery about a gene associated with the risk of Alzheimer's disease.This risk is tied to the APOE4 gene, which destroys brain cells if a person carries the gene. It puts them at higher risk for developing the disease, although inheriting the gene doesn't necessarily mean one will develop the disease, according to the NIH. The APOE3 gene is the most common and isn't known to affect Alzheimer's risk.Although the link between the gene and the disease is well established, the mechanism responsible for the underlying risk in brain cells has been unclear in research until the recent discovery, according to researchers from the BU School of Medicine.Alzheimer's is a progressive neurodegenerative disorder and is the most common cause of dementia. It affects more than 5.8 million individuals in the United States.In the recent finding, two important aspects of the gene were discovered — the human genetic background associated with the gene is unique to APOE 4 patients and the genetic defects are unique to human cells.“Our study demonstrated what the APOE4 gene does and which brain cells get affected the most in humans by comparing human and mouse models. These are important findings as we can find therapeutics if we understand how and where this risk gene is destroying our brain," said assistant professor in the BU School of Medicine Julia TCW.Researchers used three models to investigate the effects of the gene on brain cells, human-induced pluripotent stem cells, post-mortem human brains and experimental models.It is also known that the gene carries a risk for Parkinson's disease and rare genetic diseases.

Researchers at Boston University on Thursday announced a breakthrough discovery about a gene associated with the risk of Alzheimer's disease.

This risk is tied to the APOE4 gene, which destroys brain cells if a person carries the gene. It puts them at higher risk for developing the disease, although inheriting the gene doesn't necessarily mean one will develop the disease, according to the NIH. The APOE3 gene is the most common and isn't known to affect Alzheimer's risk.

Although the link between the gene and the disease is well established, the mechanism responsible for the underlying risk in brain cells has been unclear in research until the recent discovery, according to researchers from the BU School of Medicine.

Alzheimer's is a progressive neurodegenerative disorder and is the most common cause of dementia. It affects more than 5.8 million individuals in the United States.

In the recent finding, two important aspects of the gene were discovered — the human genetic background associated with the gene is unique to APOE 4 patients and the genetic defects are unique to human cells.

“Our study demonstrated what the APOE4 gene does and which brain cells get affected the most in humans by comparing human and mouse models. These are important findings as we can find therapeutics if we understand how and where this risk gene is destroying our brain," said assistant professor in the BU School of Medicine Julia TCW.

Researchers used three models to investigate the effects of the gene on brain cells, human-induced pluripotent stem cells, post-mortem human brains and experimental models.

It is also known that the gene carries a risk for Parkinson's disease and rare genetic diseases.

Researchers discover genetic variants that increase Alzheimer's risk

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