They identify 75 genetic risk factors that open the door to improve Alzheimer’s diagnosis

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According to the Spanish Society of Neurology (SEN), Alzheimer’s is the most common form of dementia and affects approximately 800,000 people in Spain. This complex and multifactorial pathology, which usually develops after the age of 65, has a strong genetic component. It is believed that most cases are caused by the interaction of various genetic and ecological predisposing factors.

There is no cure yet; Available medications are primarily aimed at slowing cognitive impairment and reducing certain behavioral disorders. For this reason, one of the main challenges of the study is to better characterize its risk factors and offer new therapeutic goals.

Now researchers from Europe, the US and Australia have identified 75 regions of the genome that are linked to Alzheimer’s. Of these, 42 are new, meaning they have never been involved with the disease. Results, published in St. Genetics of natureProvide more knowledge about the biological mechanisms involved and provide better diagnosis and treatment.

The team conducted a genome-wide association study (known as GWAS) on the largest group of patients ever created.

The international team, which includes Spain, conducted a large-scale genome association study (known as GWAS) on the largest group of patients ever created, in coordination with the research director of the National Institute for Health and Medical Research. France (Inserm), Jean-Charles Lambert.

“The genetic component of the common forms of Alzheimer’s disease is very high, especially for the pathology associated with aging. “Understanding this component is one of the major challenges for the research community,” Lambert told SINC.

The sample consisted of 111,326 people who were diagnosed with the disease or had close relatives, and 677,663 healthy controls whose data came from several large European groups united in a consortium of the European Alzheimer and Dementia Biobank (EADB). Investigation of genetic risk factors related to specific aspects of pathology.

“After this important discovery, we have identified these regions in order to give them value in terms of our clinical and biological knowledge and, thus, to better understand cellular mechanisms and pathological processes,” the expert continued.

New discoveries for this type of dementia

Two cerebral pathological phenomena associated with Alzheimer’s disease have been known for years: the accumulation of beta-amyloid peptides and the modification of the Tau protein whose aggregates are found in neurons.

In a new paper, scientists have confirmed the importance of these processes. Their analysis in different regions of the genome confirms that some are involved in the production of both amyloid peptides as well as Tau protein function.

These findings confirm and expand our knowledge of disease-related pathological processes and open up new avenues for therapeutic research.

Jean-Charles Lambert, Inserm

In addition, their observation also reveals that this pathology involves the dysfunction of innate immunity and the action of microglia – immune cells in the central nervous system that eliminate toxic substances.

“Finally, this study showed for the first time that tumor necrosis factor alpha (TNF-alpha)-dependent signaling pathway is involved in the disease,” adds Lambert. “These findings confirm and broaden our understanding of the pathological processes associated with the disease and open up new avenues for therapeutic research.

For example, they confirm the usefulness of conducting clinical trials of therapy targeting an amyloid precursor protein, continuing the study of microglial cells started several years ago, and focusing on the TNF-alpha signaling pathway.

Risk score

The researchers also developed genetic risk scores to better assess patients with cognitive impairment who develop Alzheimer’s disease within three years of clinical manifestation.

“Although this tool is not yet intended for clinical practice, it can be very helpful to categorize participants according to their risk and improve the evaluation of the drugs being tested. In the same way, it will enable the optimization of therapeutic research and, consequently, accelerate the development of effective therapies, “Lambert stressed to SINC.

The researchers developed a genetic risk score to better assess which patient developed Alzheimer’s disease within three years of clinical manifestation.

Now the team wants to continue research into an even larger group and develop other approaches to cell and molecular biology to determine their role in the development of pathology.

Also, since the research was conducted mainly in Caucasian populations, one of the considerations in the future would be to conduct the same type of research in other groups to determine whether the risk factors are the same that would enhance their significance. Pathophysiological process.

“Alzheimer’s disease is the most common dementia among many others. However, the clinical diagnosis is incorrect in 20%. “A lot of work needs to be done to better understand the genetic component of these populations.”

Source: El Diario

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