Between July 11 and 15, the Alzheimer’s Association International Conference (AAIC), one of the most important Alzheimer’s events in the world, was held. Several members of Ace had the honor of participating and contributing to the advancement of knowledge about the disease.
Victoria Fernandez, Andrea Miguel Romero, Clàudia Olivé Roig, Paula Bayón-Buján and Sonia Moreno Grau will present different discoveries and ongoing projects that approach Alzheimer’s from very different angles. From why to use the brains of deceased people to how a video game can help prevent Alzheimer’s, their contributions were united by a common question: how can the study of genetics help us to know and prevent dementia? Everything points in the same direction: better understand the causes so that, one day, you can anticipate them.
How can we take Alzheimer’s prevention to the next level?
On the first day, Genes4All was presented, a practical project that aims to bring dementia prevention closer to the general public. When discussing genetics and dementia, the terminology is often so complex that many people lose interest and, consequently, neglect their health. Therefore, in addition to a guide for medical professionals, a video game with information on prevention and a publicly accessible website with free resources were developed to help people understand genetic testing, the risks associated with dementia, and how to make better decisions about the topic.
Can the brains of deceased individuals be used to learn about Alzheimer’s?
The answer is yes: Alzheimer’s is generally studied in living people, so most tests must be limited to cerebrospinal fluid sampling, MRIs, or other measures that do not harm the patient. However, with brain donations, it is possible to specifically analyze how the brain was damaged and what relationship exists with specific genetic variations.
Accordingly, they presented GADIR (Genomics and Digital Neuropathological Phenotyping of Iberian Brains to Refine the Genetic Architecture of Dementia), a project that brings together hundreds of donated brains and uses IAgen tools to analyze the relationship between genetics and brain lesions. While the project is currently focused on Spain and Portugal, it is hoped that in the long term it can be extended to the rest of Europe.
How do parents affect Alzheimer’s?
Much has been studied about the genetics of Alzheimer’s, but until now very little is known about how homozygous recessive genes—those inherited identically from both the father and the mother—affect the disease. A study with tens of thousands of people found that those living with Alzheimer’s have longer fragments of identical DNA than healthy individuals, leading researchers to conclude that there is a recessive gene component that was previously overlooked.
How do you differentiate Alzheimer’s from Lewy body dementia?
That has been one of the most difficult questions for scientists working on the topic to answer. Alzheimer’s is associated with two proteins—amyloid and tau—however, these two are also found in Lewy body dementia, which can complicate how they work.
Consequently, Fernández and his team analyzed the DNA of more than 700 people with this disease to understand which genes influence the appearance of these proteins. They found that a gene already known in Alzheimer’s, called APOE, is also key here: it appears to be primarily responsible for the appearance of tau. In contrast, other genes related to how cells “recycle” their waste seem to have a greater influence on the appearance of amyloid. This finding opens the door to better distinguishing between the two diseases and, in the future, to designing more specific treatments for each.
What is the benefit of studying Alzheimer’s in people from all over the world?
To date, most Alzheimer’s studies have been conducted on people with European genetics. This can lead to overlooking certain genes and, consequently, the development of appropriate treatments for all patients. Therefore, more than 15,000 people from Spain, Chile, and Tunisia were studied. This research identified 15 genetic associations linked to European ancestry and 3 to Native American ancestry, which could help improve treatments for these individuals.
The AAIC (Alzheimer’s Association Conference) is organized annually by the Alzheimer’s Association and brings together thousands of researchers from around the world to share the latest advances in the field of dementia. ACE, as a leading center for Alzheimer’s research and care, actively participates in these conferences to stay at the forefront of the field and, above all, to translate scientific knowledge into real benefits for patients.
