Valdecilla and IDIVAL discover a genetic variant that protects against Alzheimers and various forms of dementia

16 de June de 2019

Researchers of the Marqués de Valdecilla University Hospital and the Valdecilla Sanitary Research Institute Foundation (IDIVAL) have discovered that a genetic variant in the PLCG2 gene protects against several forms of dementia.

According to the results of the study, carried out in collaboration with researchers from the UMC University of Amsterdam, this genetic variation not only protects against Alzheimer's disease, but also against other forms of neurodegenerative disorders such as fronto-temporal dementia and the dementia of Lewy bodies.

Dr. Pascual Sánchez-Juan, a neurologist at the Valdecilla Cognitive Impairment Unit and co-author of the study, has put the discovered in value, since “it gives us important clues about what are the genetic characteristics and the metabolic pathways associated with a long life free of dementia”.

He explained that until now it was known that one of the carriers of this genetic variant had a twice lower probability of developing Alzheimer's dementia compared to non-carriers. Now, he said, “it seems that carrying the variant also protects against other forms of neurodegeneration and that carriers of this variant are twice as likely to reach a hundred years without dementia”.

Dr. Sánchez-Juan stressed that the study also allowed us to observe that the PLCG2 gene variant has been especially frequent in centenarian individuals followed by researchers from the University of Amsterdam.

This genetic variant in the PLCG2 gene, which plays an important role in the immune system, “leads to a change in the structure of the PLCG2 protein, which probably alters its functioning in the immune response processes,” said the neurologist.

He also recalled that Valdecilla Cognitive Impairment Unit is currently developing the project 'Cohorte Valdecilla for the study of memory and brain aging', for which he is actively recruiting individuals over 55 years with the aim of better understanding the factors of risk and protectors associated with the development of dementia.