EVALUATION of the Gene Cass4 in the Search for Biomarkers
of Diagnosis of the Inflammatory Pathway of
alzheimer
Name: LUCAS HENRIQUE GONZAGA DE OLIVEIRA
Publication date: 06/08/2020
Advisor:
Name |
Role |
|---|---|
| FLAVIA DE PAULA (M/D) | Advisor * |
Examining board:
| Name |
Role |
|---|---|
| FLAVIA DE PAULA (M/D) | Advisor * |
| FLAVIA IMBROISI VALLE ERRERA | Internal Examiner * |
Summary: Dementias are a group that contemplates neurodegenerative pathologies, leading to
neuronal degradation irreversibly, generating progressive loss of cognition and ability
to associate memories, WHERE, with the progress of this process, dependence is
generated with immense psychological wear and tear on the family. Sporadic
Alzheimer's disease (AED) is the most common form among neurodegenerative
pathologies, WHERE the etiology of the disease has not yet been fully clarified. The
identification of single nucleotide polymorphisms (SNPs) associated with this disease
has been a strategy used in an attempt to elucidate the biochemical pathways that
cause this disease. These variables may be useful in the future as diagnostic
biomarkers. The present study analyzed the rs911159 CASS4 polymorphism, WHERE
the A allele, was implicated in the risk of cognitive decline in patients from an Asian
population. The CASS4 gene encodes a protein involved with the inflammatory
pathway that may be related to AED. In order to verify the effect of this variant on the
population of patients in Vitória-ES, a case: control association study was conducted,
WHERE the genotypes of the research participants were obtained by the PCR-RFLP
technique. The research was conducted with 74 patients with a probable diagnosis of
AED and 69 healthy individuals. The results of this research suggest that the GA
genotype of SNP rs9111959 of the CASS4 gene acts as a protective factor against
AED in ES patients. The AA genotype was not found in the sample analyzed, probably
due to the small sample size. This result is of paramount importance, due to scarcity
of studies of genetic association with this polymorphism and due to the need to search
for biomarkers for Alzheimer's disease.
