The Power Of Genetics In Alzheimer’s Disease

The number of elderly people has increased in recent years. One of the consequences of this phenomenon is the increase in diagnoses of certain age-related diseases. In this article, we’ll talk specifically about Alzheimer’s disease, its genetic component, and presymptomatic tests that assess the likelihood of having it.
The power of genetics in Alzheimer's disease

According to the WHO, around 47.5 million people worldwide have dementia, with Alzheimer’s disease being the most common form of manifestation. In addition to the absence of a 100% effective treatment, this type of dementia is characterized by its irreversibility.

Alzheimer’s disease is a type of neurodegenerative dementia that causes problems with memory, speech, thinking, behavior, etc. This disease is sometimes preceded by a mild cognitive impairment, which would be an intermediate state between a normal cognitive state and dementia.

Factors related to the disease

Although the cause of this disease is unknown, different factors can be involved in the development of Alzheimer’s disease. Here are the ones that are identified as being the most important:

  • Age : the biggest risk factor
  • Family history:  People with parents or siblings with Alzheimer’s disease are more likely to develop the disease. The risk increases if more than one family member has the disease. In this case, genetic, environmental, or both factors would influence
  • The gene:  according to the Pasqual Maragall foundation, only 1% of cases can be attributed solely to genetics. This usually happens when, in the same family, several consecutive generations are diagnosed before age 65

If we base ourselves on this last point, one could deduce from it that Alzheimer’s disease of genetic nature is precocious.

Alzheimer's disease in a woman

How do genetics influence the development of Alzheimer’s disease?

From our parents, we inherit two types of genes. They influence a person’s predisposition to suffer from the disease. These are risk genes and deterministic genes:

  • Genes at risk increase the likelihood of the disease developing, but that does not guarantee that it will happen. This means that this type of gene is a risk factor like any other
  • Deterministic genes, on the other hand, ensure that what you inherit will happen sooner or later. This type of gene is to blame for 1% of the cases in which the disease develops. When this happens, it is called familial Alzheimer’s disease.

What if someone suspects they are part of that 1%?

Currently, it is possible to make a presymptomatic diagnosis of Alzheimer’s disease.  This diagnosis would be made through a genetic test. With this test, it would be excluded whether or not the person is a carrier of the mutation causing this dementia.

Being part of the at-risk population or being suspected of being prone to developing the disease can cause a person a fear that significantly and negatively affects their life. In these cases, the devastating effects of Alzheimer’s disease can begin to manifest even long before the onset of the disease.

Therefore, it is necessary to emphasize that there are genetic counseling teams that inform, educate, prepare and resolve the doubts of those interested in undergoing this type of presymptomatic tests.

Alzheimer's disease genes

The professionals who make up the team are responsible for taking care of their mental health. Starting with the fear that can hold them back. In addition, they ensure that all ethical principles are respected during the process.

These teams are generally made up of: neurologists, psychologists, psychiatrists, geneticists, social workers, etc. This process, in addition to having a high economic cost, comes before a great dilemma. It would be, in a sense, to live while awaiting the arrival of the disease. Although, on the other hand, it would give us the opportunity to plan our future taking into account the results of the test.

If we want to know if we are likely to develop Alzheimer’s disease, the assessment should always come after signing the informed consent.

Finally, the chances of being part of this small percentage of people with familial Alzheimer’s disease are very low. However,  there are techniques that allow us to know our predisposition before the first true symptoms of the disease. Of course, taking into account that, like any predictive technique, the results will have a certain margin of error.

 

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