CIB academic led the first study on the importance of Vitamin D at the cellular level in Chile
01-06-2021

01-06-2021
Dr. Carol San Martín and a team of neurologists worked with patients with cognitive impairment for two years. The gene for this receptor is important, since it modulates the gene expression of approximately 3% of our genome.
The researcher at the Center for Integrative Biology (CIB), Dr. Carol San Martín, led the first study on polymorphisms of the vitamin D receptor gene carried out in Chile in patients with cognitive impairment, together with neurologists from the Clinical Hospital of the University of Chile.
For two years, the team worked with patients with this disease, which is the period before Alzheimer's, and another group of controls of the same age, but without memory problems. Thus, they found that of the three polymorphisms studied, two were associated with cognitive impairment in our population.
In the study, which was published on December in the Journal of Alzheimers Disease, the researchers also found that people who carried these polymorphisms also had fewer beta-peptide transporters in their cells, which are responsible for eliminating and cleaning the brain of this protein that accumulates in the brain in Alzheimer's disease.
The Dr. in Biomedical Sciences commented on the importance of the polymorphisms of this gene. “Vitamin D deficiency is a modifiable risk factor that could affect the development of Alzheimer's disease. Once it is in our body, vitamin D acts through its receptor and this receptor has the ability to modulate the expression of approximately 3% of our genome. So this receptor has an important cellular function in the expression of many genes, among them, the beta amyloid peptide transporters, which were the ones we addressed in this study ".
For the CIB researcher, this work “is important because it opens the door to new questions and research, for example, whether being a carrier of this polymorphism makes you more or less susceptible to treatments with vitamin D as adjunctive therapy. In addition, whether having this genetic variability could affect the effect of treating this disease or other molecular changes that we are yet to discover. All of these are questions that can be addressed from translational research, where clinical and basic science merge".