DANIEL SHIKANAI KERR
Projetos de Pesquisa
Unidades Organizacionais
LIM/27 - Laboratório de Neurociências, Hospital das Clínicas, Faculdade de Medicina
7 resultados
Resultados de Busca
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- Higher transcription alleles of the MAOA-uVNTR polymorphism are associated with higher seizure frequency in temporal lobe epilepsy(2019) VINCENTIIS, Silvia; ALCANTARA, Juliana; RZEZAK, Patricia; KERR, Daniel; SANTOS, Bernardo dos; ALESSI, Ruda; LINDEN, Helio van der; ARRUDA, Francisco; CHAIM-AVANCINI, Tiffany; SERPA, Mauricio; BUSATTO, Geraldo; GATTAZ, Wagner; DEMARQUE, Renata; VALENTE, Kette D.Background: There is evidence of an imbalance in the neuromodulatory system mediated by serotonin (5-HT) in patients with drug-resistant temporal lobe epilepsy (TLE). This study analyzed the monoamine oxidase A promoter variable number of tandem repeats (MAOA-uVNTR) polymorphism in patients with temporal lobe epilepsy with hippocampal sclerosis (TLE-HS). Therefore, we assessed the association between this genetic variant and seizure predisposition and severity in patients with TLE-HS. Methods: One hundred nineteen patients with TLE-HS and 113 healthy volunteers were assessed. First, we genotyped all individuals for the MAOA-uVNTR genetic polymorphism. Second, we compared patients and controls and evaluated clinical variants of epilepsy. Results: There was no difference between the TLE-HS and control groups regarding genotypic and allelic distributions of MAOA-uVNTR polymorphism (p = 1.000). Higher transcription alleles of the MAOA-uVNTR were associated with higher seizure frequency (p = 0.032) and bilateral tonic-clonic seizures (p = 0.016). Conclusions: In a selected group of patients with TLE-HS, the polymorphism MAOA-uVNTR was associated with some aspects of epilepsy severity, namely seizure frequency and bilateral tonic-clonic seizures.
conferenceObject The Role Of Dopamine Transporter Intron 8 VNTR Polymorphism In The Occurrence Of Depression In Temporal Lobe Epilepsy(2019) VINCENTIIS, S.; ALCANTARA, J.; RZEZAK, P.; KERR, D.; GATTAZ, W.; LINDEN JUNIOR, H. van der; ARRUDA, F.; SANTOS, B. dos; CHAIM-AVANCINI, T.; SERPA, M.; FERNANDES, F.; MORENO, R. A.; BUSATTO, G. F.; DEMARQUE, R.; VALENTE, K. D.; ALESSI, R.- Association study of functional polymorphisms of dopaminergic pathway in epilepsy-related factors of temporal lobe epilepsy in Brazilian population(2018) ALCANTARA, J. A.; VINCENTIS, S.; KERR, D. S.; SANTOS, B. dos; ALESSI, R.; LINDEN JR., H. van der; CHAIM, T.; SERPA, M. H.; BUSATTO, G. F.; GATTAZ, W. F.; DEMARQUE, R.; VALENTE, K. D.Background and purposeThere are few data about the role of neurotransmission modulated by dopamine in epilepsy, especially temporal lobe epilepsy (TLE). This is the first study that aimed to analyze the dopaminergic polymorphisms in an etiologically homogeneous group of patients with TLE with hippocampal sclerosis. Selected polymorphisms were: (i) the most expressed D2-like receptors in the limbic system (DRD2/ANKK1 TAQ-1A, D4_VNTR and D4_rs1800955); (ii) the dopamine transporter (DAT) 3-untranslated region and intron 8; and (iii) two degrading enzymes regulating the synaptic activity, i.e. the main metabolizer of dopamine, catechol-O-methyltransferase, and monoamine oxidase A. MethodsWe assessed 119 patients with unequivocal TLE with hippocampal sclerosis and 112 healthy volunteers. Individuals were genotyped for the polymorphisms of the gene encoding dopaminergic pathway transporter DAT haplotype, dopaminergic receptors, catechol-O-methyltransferase and monoamine oxidase A. We also evaluated epilepsy-related factors (e.g. seizure frequency, age of onset, duration and status epilepticus). ResultsThere was no difference between the groups for the studied polymorphisms. The polymorphism DRD4_VNTR was associated with family history of epilepsy (P = 0.003), DRD2_rs1800497 was related to status epilepticus (P = 0.022), and intron 8 VNTR DAT was related to higher seizure frequency (P = 0.019) and family history of epilepsy (P = 0.011). ConclusionsOur findings demonstrated that polymorphisms of the dopaminergic pathway are associated with significant clinical features of this form of epilepsy, such as seizure frequency, family history of epilepsy and status epilepticus.
conferenceObject Genetic polymorphisms of dopamine receptors are not related with depression in temporal lobe epilepsy caused by hippocampal sclerosis(2022) VINCENTIIS, S.; ALCANTARA, J. A.; RZEZAK, P.; KERR, D. S.; GATTAZ, W. F.; LINDEN JR., H. van der; SANTOS, B. dos; ARRUDA, F.; CHAIM-AVANCINI, T.; SERPA, M. H.; FERNANDES, F.; MORENO, R. A.; BUSATTO, G. F.; ALESSI, R.; DEMARQUE, R.; VALENTE, K. D.- Genetic polymorphisms of the 5HT receptors are not related with depression in temporal lobe epilepsy caused by hippocampal sclerosis(2018) VINCENTIIS, Silvia; ALCANTARA, Juliana; RZEZAK, Patricia; KERR, Daniel S.; GATTAZ, Wagner F.; LINDEN JR., Helio van der; SANTOS, Bernardo dos; MELO-SOUZA, Sebastiao E.; ARRUDA, Francisco; RAGAZZO, Paulo; CHAIM-AVANCINI, Tiffany; SERPA, Mauricio H.; FERNANDES, Fernando; MORENO, Ricardo A.; BUSATTO, Geraldo; ALESSI, Ruda; DEMARQUE, Renata; VALENTE, Kette D.Background: Temporal lobe epilepsy caused by hippocampal sclerosis (TLE-HS) is the most frequent form of drug-resistant epilepsy in adults. Mood disorders are the most frequent psychiatric comorbidities observed in these patients. Common pathophysiological mechanisms of epilepsy and psychiatric comorbidities include abnormalities in the serotonin pathway. The primary goal of this study was to determine the possible association between polymorphisms of genes encoding the serotonin receptors 5HT1A (rs6295), 5HT1B (rs6296), and 5HT2C (rs6318) and the presence of mood disorders in patients with TLE-HS. Our secondary goal was to evaluate the possible association between these variants and susceptibility to develop seizures in TLE-HS. Methods: We assessed 119 patients with TLE-HS, with and without psychiatric comorbidities; 146 patients with major depressive disorder; and 113 healthy volunteers. Individuals were genotyped for the rs6295, rs6296, and rs6318 polymorphisms. Results: No difference was observed between the group with TLE-HS, healthy controls, and the group with major depressive disorder without epilepsy regarding the polymorphisms that were evaluated. There was no correlation between rs6318, rs6295, rs6296, and epilepsy-related factors and history of psychiatric comorbidities. Conclusions: Our work suggests that the studied polymorphisms were not related to the presence of TLE, psychiatric comorbidities in TLE, and epilepsy-related factors.
- BDNF Val66Met polymorphism is not related with temporal lobe epilepsy caused by hippocampal sclerosis in Brazilian population(2018) ALCANTARA, Juliana A.; VINCENTIIS, Silvia; SANTOS, Bernardo; KERR, Daniel; PAULA, Vanessa de; ALESSI, Ruda; LINDEN, Helio; CHAIM, Tiffany; SERPA, Mauricio; BUSATTO, Geraldo; GATTAZ, Wagner; VALENTE, Kette D.Purpose: Some variants of the brain derived neurotrophic factors (BDNF) gene, namely the Val66Met (rs6265), may contribute the risk for epilepsy development. We aimed to investigate if this polymorphism was associated with the risk for epilepsy development in TLE-HS and its correlation with epilepsy-related factors and the presence of psychiatric disorders. Methods: We assessed 119 patients with unequivocal TLE-HS and 112 healthy controls. Individuals were genotyped for the polymorphisms of the gene encoding BDNF Val66Met. Results: There was no difference between TLE-HS and healthy controls, for the genotypic distribution (p = 0.636) and allelic distribution (p = 0.471). There was no correlation between Val66Met and epilepsy-related factors and for psychiatric comorbidities (p = 0.888). Conclusions: Our findings demonstrated that polymorphism Val66Met is not associated with TLE-HS, epilepsy-related factors and psychiatric comorbidities in this selected group of patients.
- Genetic polymorphisms of the serotonin transporter are not related with depression in temporal lobe epilepsy caused by hippocampal sclerosis(2021) VINCENTIIS, Silvia; ALCANTARA, Juliana A.; RZEZAK, Patricia; KERR, Daniel S.; GATTAZ, Wagner F.; JR, Helio van der Linden; SANTOS, Bernardo dos; ARRUDA, Francisco; CHAIM-AVANCINI, Tiffany; SERPA, Mauricio H.; FERNANDES, Fernando; MORENO, Ricardo A.; BUSATTO, Geraldo F.; ALESSI, Ruda; DEMARQUE, Renata; VALENTE, Kette D.Background: Mood disorders are the most frequent psychiatric disorders in patients with temporal lobe epilepsy caused by hippocampal sclerosis (TLE-HS). The pathophysiological mechanisms in common between TLE and mood disorders include abnormalities in the serotonergic pathway. We aimed to evaluate the association between serotonin transporter genetic polymorphisms - 5-HTTLPR and 5-HTTVNTR - and the presence of mood disorders in patients with TLE-HS. Methods: We evaluated 119 patients with TLE-HS, with and without psychiatric disorder; 146 patients diagnosed with major depressive disorder (MDD), and 113 healthy volunteers. Individuals were geno-typed for the 5-HTTLPR and 5-HTTVNTR polymorphisms. Results: No difference was observed between the TLE-HS groups, healthy controls, and MDD without epilepsy. There was a correlation between the 12-allele of the 5-HTTVNTR and the family history of patients with epilepsy with TLE-HS (p = 0.013). Conclusions: In this study conducted in two Brazilian centers, the serotonin transporter polymorphisms evaluated cannot be associated with depressive disorder in patients with TLE-HS. Still, they do have some influence over some clinical characteristics of epilepsy in TLE-HS. These data may not be reproduced in other populations with distinct ethnic characteristics.