Unit:
Κατεύθυνση ΦαρμακολογίαLibrary of the School of Science
Author:
Demertzis Antonios
Supervisors info:
Δρακούλης Νικόλαος, Αναπληρωτής Καθηγητής του τομέα Φαρμακευτικής
Τεχνολογίας, Τμήμα Φαρμακευτικής, Σχολή Επιστημών Υγείας, Εθνικό και
Καποδιστριακό Πανεπιστήμιο Αθηνών
Original Title:
Μελέτη της εμφάνισης των πολυμορφισμών rs10735810, rs1544410 και rs731236 του γονιδίου του υποδοχέα της βιταμίνης D (VDR) σε καυκάσιους ασθενείς με επιληψία, υπό αντιεπιληπτική αγωγή.
Translated title:
Association between Vitamin D Receptor Gene Polymorphisms rs10735810, rs1544410 and rs731236 with epilepsy in Caucasian patients receiving antiepileptic drug treatment.
Summary:
Epilepsy is one of the most common neurological disorder, as long as it
affects 1 – 2% of the global population. It is described as a continuous tense
for epileptic seizures, which are unpredictable, abnormal and massive
discharges of neurons that disrupt the normal brain function. They are
classified as focal or generalized depending on the level of consciousness
that is affected. Epileptogenesis may occur due to exogenous factors or
central nervous system dysfunction.
Vitamin D is knows for hew neuroprotective action. Low vitamin D levels may
refer to many neurological diseases such as multiple sclerosis, Alzheimer
disease, Parkinson disease and epilepsy.
Vitamin D acts through binding to membrane receptors, triggering a signaling
cascade (non genomic actions) or through binding to its nuclear receptor VDR
(genomic actions) working as a transcription factor.
This study aims to investigate the association between rs2228570 (FokI),
rs154410 (BsmI) and rs731236 (TaqI) polymorphisms of the VDR gene and
the appearance of epilepsy in a sample of Southeastern European Caucasian
patients.
This study included 128 patients diagnosed with focal epilepsy and 509
Southeastern European Caucasian controls. Genomic DNA was extracted
from white blood cells of periphenal blood using a DNA isolation kit.
Polymorphisms were analyzed by using real - time PCR.
Main subject category:
Science
Other subject categories:
Health Sciences
Keywords:
Epilepsy, Vitamin D, VDR, Vitamin D receptor, polymorphism
Number of references:
156
