Association of Brain Derived Neurotrophic Factor (BDNF) rs6265 Gene Polymorphism With Susceptibility to Epilepsy
NCT05096871 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 90
Last updated 2021-10-27
Summary
Epilepsy is a common neurological condition that affects people of all ages.Recent studies found that epilepsy is associated with several chromosomal regions, where mutations in these regions cause neurological dysfunction.
BDNF which is the most ample neurotropic factor in the CNS, has survival and growth promoting roles in a variety of neurons. It has been shown to promote excitatory (glutamatergic) synapses while weakening inhibitory (GABAergic) ones.
A nonsynonymous G to A single-nucleotide polymorphism (SNP) exists at position 196 of exon 2 (rs6265), which results in valine (val) to methionine (met) substitution. This polymorphism affects intracellular packaging of pro-BDNF, its axonal transport and in turn, activity-dependent secretion of BDNF at the synapse.
Conditions
Interventions
- GENETIC
-
Genotyping by Real Time PCR
3 mL of blood will be withdrawn by venipuncture in EDTA tube. DNA extraction will be done after centrifugation and used for genotyping assay of ( BDNF ) gene with the Real- time polymerase chain reaction. BDNF level in serum will also be analyzed by Sandwich enzyme linked immunosorbant assay kit ( ELISA).
Sponsors & Collaborators
-
Sohag University
lead OTHER
Eligibility
- Min Age
- 1 Year
- Max Age
- 15 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2021-11-01
- Primary Completion
- 2022-11-01
- Completion
- 2022-12-01
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