Research shows that two copies of the APOE4 gene are responsible for 20% of Alzheimer’s cases

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Penetration and predictive value of APOE4 homozygosity in AD. a, Distribution of ADNC scores by age at death. b, Frequency of positive amyloid and tau biomarkers over 5-year age intervals. c, Overview of the mean age and 95% confidence interval at which symptoms, MCI and dementia manifest. d, The 95% prediction intervals for different genetically determined forms of AD. Credit: Naturopathy (2024). DOI: 10.1038/s41591-024-02931-w

A team of neurologists from multiple institutions in Spain and the US has found evidence suggesting that up to 20% of all cases of Alzheimer’s disease may be due to duplicate copies of the APOE4 gene.

For their paper published in the magazine Naturopathythe group studied data from the brains of thousands of deceased AD patients and biomarkers in another 10,000 living patients.

Qin Xu, Zherui Liang and Yadong Huan, from the Gladstone Institute of Neurological Disease, have News and Views piece in the same magazine issue describing the work the team has done on this new effort.

AD is a specific type of dementia that involves mental decline due to gradual degeneration of the brain. Previous research has shown that there are two main types of AD; genetic forms and late forms. Previous research has also shown that homozygous APOE4 genes (having two copies) are one of the risk factors for the genetic nature of the disease.

In this new study, the research team has found evidence suggesting that AD due to homozygous APOE4 genes should be classified as a third common type of the disease, rather than as a risk factor.

The team’s work included analyzing pathology data obtained from 3,300 AD patients and data for an additional 10,000 living AD patients collected from multiple medical facilities. They found that 800 of the people who participated in the study had homozygous APOE4 genes. They also found that virtually all had high levels of amyloid in their cerebrospinal fluid by age 65 — a finding, they suggest, that indicates the disease was completely pervasive in those patients.

They also found that the age at which symptoms became apparent was consistent among people with homozygous APOE4 genes. And biomarkers for people with the genes evolved into predictable patterns that were very similar across patients.

Their findings suggest that between 15% and 20% of AD cases may likely be due to patients with homozygous APOE4 genes. Taken together, the research team says the evidence indicates that AD cases involving homozygous APOE4 genes should be considered a unique type of AD, and not just a risk factor.

More information:
Juan Fortea et al., APOE4 homozygosity represents a distinct genetic form of Alzheimer’s disease, Naturopathy (2024). DOI: 10.1038/s41591-024-02931-w

Qin Xu et al., APOE4 homozygosity is a novel genetic form of Alzheimer’s disease, Naturopathy (2024). DOI: 10.1038/s41591-024-02923-w

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Quote: Study suggests two copies of the APOE4 gene are responsible for up to 20% of Alzheimer’s cases (2024, May 12) Retrieved May 12, 2024 from gene-alzheimer-cases.html

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