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Association of Brain Derived Neurotrophic Factor (BDNF) rs6265 Gene Polymorphism With Susceptibility to Epilepsy

NCT ID: NCT05096871

Last Updated: 2021-10-27

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

90 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-11-01

Study Completion Date

2022-12-01

Brief Summary

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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.

Detailed Description

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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 CNS.It has been shown to promote excitatory (glutamatergic) synapses while weakening inhibitory (GABAergic) ones.Any 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

Conditions

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Epilepsy

Keywords

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BDNF in epileptic patients

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Group I

patients with epilepsy

Genotyping by Real Time PCR

Intervention Type GENETIC

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).

Group II

apparently healthy controls with no chronic illness of matched age and sex

Genotyping by Real Time PCR

Intervention Type GENETIC

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).

Interventions

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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).

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

• Epileptic patients aged more than 1 year and less than 15 year who recently had seizures over a period of one year

Exclusion Criteria

* Patients \> 15 years old or less than 1 year.
* Patients that have epilepsy as a result of head injuries, brain tumors , exposure to low oxygen during birth or infections such as meningitis or encephalitis .
* Patients that have no sufficient medical records or unreliable seizure frequency,
* patients with developmental disorders such as Autism and Neurofibromatosis
Minimum Eligible Age

1 Year

Maximum Eligible Age

15 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Sohag University

OTHER

Sponsor Role lead

Responsible Party

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Salma Khalaf Abdelmageed

demonstrator of Medical Biochemistry

Responsibility Role PRINCIPAL_INVESTIGATOR

Central Contacts

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Salma K Abdelmageed, demonstrator

Role: CONTACT

Phone: 01091285241

Email: [email protected]

References

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Egan MF, Kojima M, Callicott JH, Goldberg TE, Kolachana BS, Bertolino A, Zaitsev E, Gold B, Goldman D, Dean M, Lu B, Weinberger DR. The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. Cell. 2003 Jan 24;112(2):257-69. doi: 10.1016/s0092-8674(03)00035-7.

Reference Type BACKGROUND
PMID: 12553913 (View on PubMed)

Chen ZY, Patel PD, Sant G, Meng CX, Teng KK, Hempstead BL, Lee FS. Variant brain-derived neurotrophic factor (BDNF) (Met66) alters the intracellular trafficking and activity-dependent secretion of wild-type BDNF in neurosecretory cells and cortical neurons. J Neurosci. 2004 May 5;24(18):4401-11. doi: 10.1523/JNEUROSCI.0348-04.2004.

Reference Type BACKGROUND
PMID: 15128854 (View on PubMed)

Fisher RS, Acevedo C, Arzimanoglou A, Bogacz A, Cross JH, Elger CE, Engel J Jr, Forsgren L, French JA, Glynn M, Hesdorffer DC, Lee BI, Mathern GW, Moshe SL, Perucca E, Scheffer IE, Tomson T, Watanabe M, Wiebe S. ILAE official report: a practical clinical definition of epilepsy. Epilepsia. 2014 Apr;55(4):475-82. doi: 10.1111/epi.12550. Epub 2014 Apr 14.

Reference Type BACKGROUND
PMID: 24730690 (View on PubMed)

Loscher W, Potschka H, Sisodiya SM, Vezzani A. Drug Resistance in Epilepsy: Clinical Impact, Potential Mechanisms, and New Innovative Treatment Options. Pharmacol Rev. 2020 Jul;72(3):606-638. doi: 10.1124/pr.120.019539.

Reference Type BACKGROUND
PMID: 32540959 (View on PubMed)

Other Identifiers

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Soh-Med-21-10-18

Identifier Type: -

Identifier Source: org_study_id