Home ยป They Identify 13 Genetic Variants That Increase The Risk Of Suffering From Alzheimer’s

They Identify 13 Genetic Variants That Increase The Risk Of Suffering From Alzheimer’s

The Alzheimer ‘s disease is one of the great challenges for medicine of our time. Therefore, many researchers dedicate their efforts to find out more about this condition.

Thus, a team of researchers from Boston General Hospital (Massachusetts, USA) and the Department of Neuroscience at the University of Sheffield (United Kingdom) have recently identified 13 genetic variants that significantly increase the risk of suffering from Alzheimer’s.

77% of human DNA is made up of rare variants
As detailed in the article in which the results of this work are exposed, published in the specialized medium Alzheimer’s & Dementia , to identify these mutations the authors have used a genetic technique that allows them to ‘read’ the entire genome, called Deep Whole Genome Sequencing (WGS).

Unlike previous studies, which had sought to find common genetic traits that predisposed to developing this disease, this time the researchers focused on finding rare variants.

Contrary to what one might think, these rare variants, although they are specifically repeated very infrequently from one individual to another, make up about 77% of the 50 to 60 million genetic variants that make up each person’s DNA. Therefore, they are often the key to understanding the origin or development of many diseases.

Using data from 2,247 individuals from 605 different families , in which several members suffer or have suffered from Alzheimer’s, they found thirteen specific variables associated with the risk of developing the disease.

This finding could later be replicated in another cohort of 1,669 unrelated individuals .

Variants involved in neuroplasticity
The analysis of these variants (FNBP1L, SEL1L, LINC00298, PRKCH, C15ORF41, C2CD3, KIF2A, APC, LHX9, NALCN, CTNNA2, SYTL3 and CLSTN2) revealed in most cases roles related to neuroplasticity, synaptic function and neural development.

For example, in Alzheimer’s patients, four of these genes (APC, CTNNA2, KIF2A, and NALCN) were expressed (that is, the information contained was synthesized in a protein) primarily in brain tissue , while conversely the PRKCH expression was significantly reduced in the temporal cortex (involved in functions such as memory and language).

However, two others interacted with previously known genes related to Alzheimer’s disease : FNBP1L and KIF2A.

All these findings, in principle, could have future applications as important diagnostic tools and even as targets for gene therapies aimed at reversing the effects of the disease.

Study limitations
Still, the authors acknowledge that the scope of the findings is limited by two issues. The main one is the size of the mixture , which is relatively small compared to those used in many Genome Whole-Genome Association (GWAS) studies of common variants. This is due, they explain, to the limited availability of individuals who meet the required criteria (families with several cases of Alzheimer’s).

On the other hand, they acknowledge that 80% of the sample was made up of individuals of European descent, which limits the universality of the results.