Spanish researchers discover new genetic variant of Alzheimer’s disease

The genetics of Alzheimer’s disease has taken a significant step forward with the recent discovery of a new genetic variant that almost certainly predicts the development of the disease.

A team led by neurologist Juan Fortea from the Sant Pau Hospital in Barcelona conducted an exhaustive study, analyzing more than 3,000 brain samples from deceased people. plus brain scans and other diagnostic tests on another 10,000 patients..

APOE4 gene

The study’s alarming finding: Nearly 95% of people with two copies of the APOE4 gene showed early biological markers of Alzheimer’s disease, such as amyloid protein accumulation.

That’s why, This study not only confirms the critical role of the APOE4 gene in the development of Alzheimer’s disease., but also redefines its importance by suggesting that a double copy of this gene represents another form of genetic Alzheimer’s disease, more common and earlier than previously known forms. According to Fortea, 2% to 3% of the world’s Caucasian population are carriers of this double copy, representing millions of people affected worldwide.

What implications does this discovery have?

This discovery has profound implications from both a medical and ethical perspective. Ask yourself if you would like to know that you are likely to develop Alzheimer’s disease at age 65. This is a question that many may struggle with.

Research published in Natural medicineshows that this information can be made available, changing the life decisions of many people and possibly public health policies related to early diagnosis and treatment of the disease.

The future may include more widespread use of genetic testing and communication of results to patients, which is not currently recommended in clinical practice due to the lack of effective treatments. However, with the advent of new drugs such as lecanemab and donanemab, although modest in their effect, There is hope for the possibility of intervention at earlier stages of the disease..

Road map

This research represents a decisive step forward in understanding Alzheimer’s disease and could usher in a new era in the prevention and treatment of one of the most devastating and mysterious diseases facing humanity. With this knowledge, medicine is better prepared to develop strategies that enable people to cope with this disease with greater anticipation and efficiency.

However, the researchers emphasize the need to continue larger studies to confirm these results and assess the exact risk of carrying this genetic variant. Additionally, the study highlights the importance of considering genetic diversity in Alzheimer’s disease research, as current data comes almost exclusively from Caucasian populations in the West, and The effects of the APOE4 variant may vary significantly among different ethnic groups..

From a treatment perspective, the challenges are significant. Patients with a double copy of APOE4 are not only more likely to develop Alzheimer’s disease earlier, but may also experience more severe side effects from current treatments that target the amyloid and tau proteins. This emphasizes the need for a more personalized approach in the treatment and prevention of the disease, taking into account the genetic characteristics of each patient.