Ignite Creation Date:
2024-05-06 @ 4:47 PM
Last Modification Date:
2024-10-26 @ 2:16 PM
Study NCT ID:
NCT05096871
Status:
UNKNOWN
Last Update Posted:
2021-10-27
First Post:
2021-10-14
Brief Title:
Association of Brain Derived Neurotrophic Factor BDNF rs6265 Gene Polymorphism With Susceptibility to Epilepsy
Sponsor:
Sohag University
Organization:
Sohag University
Study Overview
Official Title:
Association of Brain Derived Neurotrophic Factor BDNF rs6265 Gene Polymorphism With Susceptibility to Epilepsy
Status:
UNKNOWN
Status Verified Date:
2021-10
Last Known Status:
NOT_YET_RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Epilepsy is a common neurological condition that affects people of all agesRecent 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
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
Detailed Description:
Epilepsy was defined as the separate occurrence of two or more unprovoked seizures manifested by involuntary motor sensory or autonomic alone or in combination and not diagnosed as neonatal or febrile seizures Despite extensive studies the molecular causes of the disease are not yet discovered completely A functional imbalance between excitatory transmitted by glutamate and inhibitory signals transmitted by γ-amino butyric acid or GABA in neural cells has been regarded as a putative contributing factor in epilepsy
The brain-derived neurotropic factor BDNF encodes a small dimeric protein which is the most ample neurotropic factor in the CNSIt has been shown to promote excitatory glutamatergic synapses while weakening inhibitory GABAergic onesAny interference with the BDNF signaling pathway may negatively affect downstream neuronal functions and cause neuronal diseases
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 at codon 66 val66met changing the 5 proregion of the human BDNF protein This polymorphism affects intracellular packaging of pro-BDNF its axonal transport and in turn activity-dependent secretion of BDNF at the synapse
The brain-derived neurotropic factor BDNF encodes a small dimeric protein which is the most ample neurotropic factor in the CNSIt has been shown to promote excitatory glutamatergic synapses while weakening inhibitory GABAergic onesAny interference with the BDNF signaling pathway may negatively affect downstream neuronal functions and cause neuronal diseases
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 at codon 66 val66met changing the 5 proregion of the human BDNF protein This polymorphism affects intracellular packaging of pro-BDNF its axonal transport and in turn activity-dependent secretion of BDNF at the synapse
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None