Skip to content

    Alzheimer's Disease Health Center

    Font Size

    New Alzheimer’s Gene Found

    Gene May Explain 5% of Inherited Alzheimer's Disease Cases
    WebMD Health News
    Reviewed by Laura J. Martin, MD

    April 14, 2010 (Toronto) -- A newly identified gene appears to increase a person’s risk of developing late-onset Alzheimer’s disease, the most common type of Alzheimer’s disease.

    People with a particular variation in the gene, dubbed MTHFD1L, may be nearly twice as likely to develop Alzheimer’s disease as people without the variation.

    Still, the absolute risk of developing Alzheimer's will be "very small" for any given individual that carries the variant, says Margaret Pericak-Vance, PhD, director of the University of Miami Miller School of Medicine’s John P. Hussman Institute for Human Genomics.

    The study was presented at the annual meeting of the American Academy of Neurology.

    Gene May Explain 5% of Inherited Alzheimer's Disease

    The search for new genes that predispose people to Alzheimer's disease has been quite slow, Pericak-Vance tells WebMD.

    It's been nearly two decades since researchers discovered the variants in the ApoE gene that are associated with an increased risk for late-onset Alzheimer's disease, which affects people 60 and older.

    A mixture of genetic and environmental factors is thought to cause late-onset Alzheimer's disease. About 60% to 80% of the disease is attributable to genetics, and about 40% of that genetic effect is attributable to the ApoE4 variant.

    MTHFD1L may help explain another 5% of inherited cases of the disease, Pericak-Vance says.

    What makes this discovery "so exciting" is that the gene is known to be involved in the metabolism of folate, which in turn influences the body’s levels of homocysteine, she says.

    High levels of homocysteine, which are associated with too little folate in the diet, have been shown to be a risk factor for Alzheimer’s disease, she says.

    "A lot of the time we find a gene and have to figure out how it ties in to the disease. This finding melds the genetics with the biology," Pericak-Vance says.

    Genome-Wide Technique Aids Finding of New Alzheimer's Gene

    Pericak-Vance says the discovery was made possible by a technique known as a genome-wide association study (GWAS) that lets scientists look throughout the entire genome for small differences, or variants, in long stretches of DNA that are more common in people with a particular disease.

    Today on WebMD

    Remember your finger
    When it’s more than just forgetfulness.
    senior man with serious expression
    Which kinds are treatable?
    senior man
    Common symptoms to look for.
    mri scan of human brain
    Can drinking red wine reverse the disease?
    eating blueberries
    Colored mri of brain
    Human brain graphic
    mature woman
    Woman comforting ailing mother
    Senior woman with serious expression