Abstract

In patients diagnosed with early-stage Alzheimer's disease (AD), glial cell line-derived neurotrophic factor (GDNF) concentrations have been found to be significantly elevated in cerebrospinal fluid while being reduced in serum. This pattern suggests a potential regulatory mechanism contributing to AD pathology. The GDNF-AS1 gene, a cis-antisense long non-coding RNA (lncRNA) transcribed from the complementary strand of the GDNF gene, is differentially expressed in the human brain, and its transcriptional activity may influence GDNF expression in cerebral tissue. The present study investigates the association between GDNF-AS1 polymorphisms and the pathophysiology of AD. The study cohort comprised 70 Alzheimer's-type dementia patients recruited from the Psychiatry Outpatient Clinic of the State Hospital of Aydın and 70 cognitively healthy participants.Peripheral blood samples were analysed for two GDNF-AS1 polymorphisms (rs62360233 and rs112179570) using the Fluidigm SNP-type method. The data were processed using SNP genotyping analysis software (v.4.1.3) (Fluidigm, San Francisco, CA, USA).The study found no statistically significant differences between the Alzheimer's-type dementia and control groups in genotype distribution or allele frequency for either polymorphism (p>0.05).The study concluded that, although no relationship was detected between GDNF-AS1 polymorphisms and Alzheimer's type dementia, further studies with a larger number of cases are recommended.

Key words: Alzheimer’s type dementia, glial cell line-derived neurotrophic factor gene, glial cell line-derived neurotrophic factor antisense1 gene, Long non-coding RNA, polymorphism