This is one of the studies on Alzheimer’s most important in recent times. An international team of researchers was identified 75 regions of the genome associated with the disease, 42 wherein they have not yet had a relationship with him.
And this is not to say this the search is important to improve the understanding and treatment of Alzheimer’s.
What is Alzheimer’s and how is it treated?
Details of the investigation conducted by experts from Europe, the United States and Australia, published on Monday, April 4, in the magazine Genetics of Naturecontribute new information on the biological mechanisms involved and open up new methods of treatment and diagnosis.
Ang Alzheimer’s -the most common form of dementia- is a complex and multifactorial pathology.
Alzheimer’s is a complex and multifactorial pathology that usually appears after 65. Photo Shutterstock.
This incurable disease usually appears after the age of 65 and has a strong genetic component. Most cases are believed to be caused by interaction of genetic factors with environmental factors.
To better understand the origins of disease, one of the major research challenges is better identify your genetic risk factoridentifying pathophysiological processes at play, and thus suggesting new therapeutic targets.
The results of the new study
In this work, coordinated by the research director of the National Institute of Health and Medical Research of France (Inserm), Jean-Charles Lambert, the authors produced a genome-wide association study (GWAS) in the largest group of Alzheimer’s patients created to date.
The studies, which lasted more than 30 years, consisted of analyze the entire genome of tens of thousands or hundreds of thousands of individualshealthy or sick, in identify genetic risk factors associated with specific aspects of the disease.
The studies looked at the entire genome to identify genetic risk factors. Descriptive image: Zephyr/Science Source
The method is allowed to identify 75 regions (loci) of the genome associated with Alzheimer’s; 42 of them are new.
“Following this important discovery, we describe these regions to give them meaning in relation to our clinical and biological knowledge, and thus better understand the cellular mechanisms and pathological processes that performLambert explains.
In Alzheimer’s disease, there are two well -understood pathological events in the brain: accumulation of beta-amyloid peptides and the Tau protein modificationthat aggregates are found in neurons.
This study found the importance of both processesbecause when analyzing different regions of the genome they confirmed that some are involved in the production of amyloid peptides and in the function of Tau protein.
They also discovered that in Alzheimer’s disease there is a innate immunity dysfunction and the action of microglia (immune cells of the central nervous system that act as a “waste collector” that removes toxic substances).
Finally, the study showed for the first time that tumor necrosis factor alpha (TNF-alpha) -dependent signaling is involved in the disease.
The detection allows a better understanding of cellular mechanisms and pathological processes. Descriptive image: Céfiro/Source Science
All of these findings confirm and expand current knowledge about pathological processes involved in pain and tomorrow new methods of therapeutic research.
Genetic risk
Based on the findings of the study, the researchers also produced a genetic risk scores to better assess which patients with mental disabilities will develop, which three years after its clinical manifestation, Alzheimer’s disease.
“Although this tool is not intended for use in clinical practice at present, it can be very useful when setting up therapeutic trials to classify participants according to risk and improve evaluation of the drugs being testedLambert details.
To validate and expand their findings, the team will continue their research with a larger and more diverse group, as genetic research is done mainly on Caucasian populations.
With information from EFE.
Source: Clarin