World's Alzheimer's Day 2024: how to know if you have the gene

Published September 19th, 2024 - 04:41 GMT
World's Alzheimer's Day
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ALBAWABA World Alzheimer’s Day, celebrated every year on September 21st, raises awareness about Alzheimer’s disease and emphasizes the importance of early diagnosis, treatment, and support for patients and their families. One important aspect of understanding Alzheimer's is the genetic factor. 

While having a family history of Alzheimer’s doesn’t guarantee you’ll develop the disease, there are certain genes that increase your risk.

Here’s what you need to know about the genetic link to Alzheimer’s and how to find out if you carry the gene.

Alzheimer's disease is a progressive neurodegenerative disorder that primarily affects memory and cognitive function. Although the exact causes are not entirely understood, research suggests that a combination of genetic, environmental, and lifestyle factors contribute to its development.

Key Genetic Factors:

  1. APOE Gene: The most well-known gene associated with Alzheimer’s disease is APOE (apolipoprotein E), particularly its APOE-e4 variant. There are three common variants of the APOE gene:
    • APOE-e2: The least common variant, which may provide some protection against Alzheimer’s.
    • APOE-e3: The most common variant, neutral in terms of Alzheimer’s risk.
    • APOE-e4: This variant increases the risk of developing Alzheimer's. Individuals who inherit one copy of APOE-e4 from one parent have an increased risk, and those with two copies (one from each parent) are at even higher risk.
  2. Early-Onset Alzheimer's Genes: In rare cases, early-onset Alzheimer’s disease (before age 65) is linked to mutations in specific genes such as:

    • APP (amyloid precursor protein)
    • PSEN1 (presenilin 1)
    • PSEN2 (presenilin 2)

    These gene mutations almost guarantee the development of Alzheimer’s, but they account for less than 5% of all cases.

How to Know If You Have the Alzheimer’s Gene

Genetic testing can help you determine if you carry the APOE-e4 gene or one of the rare early-onset Alzheimer’s mutations. Here’s how you can find out:

1. Speak to a Genetic Counselor

Before undergoing any genetic testing, it’s important to speak with a genetic counselor. They can explain the potential benefits, risks, and limitations of testing, especially since learning about your genetic risk can be an emotional decision. A counselor can help you interpret the results and understand what they mean for your future health.

2. Genetic Testing

Genetic testing for Alzheimer’s-related genes can be done through:

  • Direct-to-consumer tests: Companies like 23andMe offer genetic testing that includes information about the APOE gene. However, these tests should be approached with caution, as they may not provide a comprehensive picture, and it’s essential to discuss the results with a healthcare professional.
  • Medical genetic testing: If you have a strong family history of Alzheimer’s, a healthcare provider may recommend more detailed genetic testing, often performed by specialized labs. This can provide more accurate information about your genetic risk.

3. Interpreting the Results

  • APOE-e4 carriers: If you test positive for one or two copies of the APOE-e4 variant, your risk of developing Alzheimer’s is increased, but it’s not a certainty. Many people with the APOE-e4 gene never develop Alzheimer’s, while others without the gene do.
  • APP, PSEN1, or PSEN2 mutations: A positive result for these gene mutations significantly increases your likelihood of developing early-onset Alzheimer’s. However, these mutations are rare and primarily affect families with a history of early-onset cases.

4. What to Do If You Have the Gene

Knowing you have the gene can be unsettling, but there are steps you can take to reduce your risk of Alzheimer’s and protect your brain health:

  • Maintain a healthy lifestyle: Regular exercise, a balanced diet (such as the Mediterranean diet), and mental stimulation are all linked to better brain health.
  • Monitor your health: Regular check-ups with your doctor can help catch early signs of cognitive decline. Some medications and therapies may slow the progression of Alzheimer’s if detected early.
  • Stay socially active: Engaging in social activities, learning new skills, and staying mentally active can help lower your risk.
  • Plan ahead: If you have a higher genetic risk, it can be helpful to make plans for your future health and care needs.

Genetic Testing: Is It for Everyone?

While genetic testing can provide valuable insights, it’s not recommended for everyone. Here’s why:

  • No guaranteed predictions: Having a genetic predisposition doesn’t mean you will definitely develop Alzheimer’s. Conversely, not having the gene doesn’t mean you’re immune to the disease.
  • Emotional and psychological impact: Knowing your genetic risk can cause anxiety or fear, especially if there are no effective ways to prevent or cure the disease.
  • No change in treatment options: Currently, there is no cure for Alzheimer’s, so knowing your genetic risk may not change your medical treatment or care plan. However, it can encourage individuals to adopt brain-healthy habits and stay vigilant about early signs of cognitive decline.

Non-Genetic Risk Factors

Even without genetic testing, there are several lifestyle and environmental factors that can influence your risk of developing Alzheimer’s. These include:

  • Age: The biggest risk factor for Alzheimer’s is age, with the majority of cases occurring in people over 65.
  • Family history: Having a parent or sibling with Alzheimer’s increases your risk, even without a genetic mutation.
  • Lifestyle factors: Smoking, high blood pressure, obesity, and a sedentary lifestyle can all increase the risk of Alzheimer’s.

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