Distúrbios cerebrais e terapia

Abstrato

Trem2 Variants and Risk of Alzheimer's Disease

Perez Martinez David Andres and Manzano Palomo Maria Sagrario

Object: Alzheimer’s disease (AD) is the most common form of dementia in the elderly. The genetic basis of lateonset AD (LOAD) is not well known. However, since 1993 the relationship with APOE gene is known, recently it has established a new relationship with the TREM2 gene. This review aims to show the implications of mutations in TREM2 gene in AD. Background: Mutations in TREM2 have been involved in Nasu-Hakola disease that causes frontotemporal dementia like (FTD-like) phenotype. Recently it has been involved in AD with an odds ratio as strong as previously reported with APOEε4. Methods and results: We review relevant papers concerning to TREM2 gene, not only its implication in neurodegenerative disease, but also those focused on Alzheimer´s Disease. Conclusion: There is an increased frequency of rare heterozygous TREM2 variations in AD and FTD, and TREM2 variants may play a role in neurodegenerative diseases in general. However, the relationship between TREM2 gene and neurodegenerative diseases is complex and ambiguous results. Surely the TREM2 variants have great interest in future research of neurodegenerative diseases.