Higher transcription alleles of the MAOA-uVNTR polymorphism are associated with higher seizure frequency in temporal lobe epilepsy

Vincentiis, Silvia; Alcântara, Juliana; Rzezak, Patrícia; Kerr, Daniel Shikanai; Santos, Bernardo dos; Alessi, Rudá; Linden, Hélio van der; Arruda, Francisco; Chaim‐Avancini, Tiffany M.; Busatto, Geraldo F.; Gattaz, Wagner F.; Demarque, Renata; Valente, Kette D.

doi:10.1016/j.eplepsyres.2018.11.003

Cited by 4 publications

(2 citation statements)

References 27 publications

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“…Thus, the associations of the expanded dodecamer repeat from the cystatin B (CSTB) gene promoter with progressive myoclonus epilepsy (EPM1) [16][17][18] were identified. For instance, length polymorphisms of 5-HTTLPR and 5-HTTVNTR (VNTR-2, STin2) of the serotonin transporter gene (5-HTT) with susceptibility to temporal lobe epilepsy (TLE) [19,20], the monoamine oxidase A promoter variable number of tandem repeat (MAOA-uVNTR) with temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) [21], and expansion of intronic pentanucleotide repeats of SAMD12, STARD7, YEATS2 and MARCH 6 genes with adult benign familial myoclonic epilepsy (BAFME) [22]. Those associations of tandem repeats with diseases may be explained by their participation in the regulation of gene expression [23][24][25].…”

Section: Introductionmentioning

confidence: 99%

Length Polymorphism and Methylation Status of UPS29 Minisatellite of the ACAP3 Gene as Molecular Biomarker of Epilepsy. Sex Differences in Seizure Types and Symptoms

Сучкова

Borisova

Паткин

2020

IJMS

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Epilepsy is a neurological disease with different clinical forms and inter-individuals heterogeneity, which may be associated with genetic and/or epigenetic polymorphisms of tandem-repeated noncoding DNA. These polymorphisms may serve as predictive biomarkers of various forms of epilepsy. ACAP3 is the protein regulating morphogenesis of neurons and neuronal migration and is an integral component of important signaling pathways. This study aimed to carry out an association analysis of the length polymorphism and DNA methylation of the UPS29 minisatellite of the ACAP3 gene in patients with epilepsy. We revealed an association of short UPS29 alleles with increased risk of development of symptomatic and cryptogenic epilepsy in women, and also with cerebrovascular pathologies, structural changes in the brain, neurological status, and the clinical pattern of seizures in both women and men. The increase of frequency of hypomethylated UPS29 alleles in men with symptomatic epilepsy, and in women with both symptomatic and cryptogenic epilepsy was observed. For patients with hypomethylated UPS29 alleles, we also observed structural changes in the brain, neurological status, and the clinical pattern of seizures. These associations had sex-specific nature similar to a genetic association. In contrast with length polymorphism epigenetic changes affected predominantly the long UPS29 allele. We suppose that genetic and epigenetic alterations UPS29 can modify ACAP3 expression and thereby affect the development and clinical course of epilepsy.

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Section: Introductionmentioning

confidence: 99%

Length Polymorphism and Methylation Status of UPS29 Minisatellite of the ACAP3 Gene as Molecular Biomarker of Epilepsy. Sex Differences in Seizure Types and Symptoms

Сучкова

Borisova

Паткин

2020

IJMS

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“…Other studies trying to relate this variant to other monoamine-metabolism-affected neurological/psychopathological disorders: such as aggression and antisocial behavior; mood disorders; schizophrenia; autism spectrum disorders; substance use disorders; and even Alzheimer’s disease; were found in the literature [ 43 , 44 , 45 ]. For instance: the high-activity alleles’ presence correlated with clinical improvement of opposing symptoms in male children and adolescents with Attention Deficit Hyperactivity Disorder using methylphenidate ( p < 0.001) [ 46 ]; the occurrence of bilateral tonic-clonic seizures in patients with epilepsy ( p = 0.032) [ 47 ]; and increased consumption of lipid-dense foods in preschool children ( p = 0.009) [ 48 ]. At the same time: the low-activity allele correlated with an early-age onset of alcohol dependence ( p = 0.01) and a more considerable amount of antisocial personality symptoms after age 15 ( p = 0.02) [ 49 ].…”

Section: Discussionmentioning

confidence: 99%

MAOA uVNTR Genetic Variant and Major Depressive Disorder: A Systematic Review

Gonçalves

Siqueira

Duarte

et al. 2022

Cells

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Major Depressive Disorder (MDD) is a highly prevalent multifactorial psychopathology affected by neurotransmitter levels. Monoamine Oxidase A (MAOA) influences several neural pathways by modulating these levels. This systematic review (per PRISMA protocol and PECOS strategy) endeavors to understand the MAOA uVNTR polymorphism influence on MDD and evaluate its 3R/3R and 3R* genotypic frequencies fluctuation in MDD patients from different populations. We searched the Web of Science, PubMed, Virtual Health Library, and EMBASE databases for eligible original articles that brought data on genotypic frequencies related to the MAOA uVNTR variant in patients with MDD. We excluded studies with incomplete data (including statistical data), reviews, meta-analyses, and abstracts. Initially, we found 43 articles. After removing duplicates and applying the inclusion/exclusion criteria, seven articles remained. The population samples studied were predominantly Asians, with high 3R and 4R allele frequencies. Notably, we observed higher 3R/3R (female) and 3R* (male) genotype frequencies in the healthy control groups and higher 4R/4R (female) and 4R* (male) genotype frequencies in the MDD groups in the majority of different populations. Despite some similarities in the articles analyzed, there is still no consensus on the MAOA uVNTR variant’s role in MDD pathogenesis.

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Genetic polymorphisms of the serotonin transporter are not related with depression in temporal lobe epilepsy caused by hippocampal sclerosis

Vincentiis

Alcântara

Rzezak

et al. 2021

Epilepsy & Behavior

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Higher transcription alleles of the MAOA-uVNTR polymorphism are associated with higher seizure frequency in temporal lobe epilepsy

Cited by 4 publications

References 27 publications

Length Polymorphism and Methylation Status of UPS29 Minisatellite of the ACAP3 Gene as Molecular Biomarker of Epilepsy. Sex Differences in Seizure Types and Symptoms

Length Polymorphism and Methylation Status of UPS29 Minisatellite of the ACAP3 Gene as Molecular Biomarker of Epilepsy. Sex Differences in Seizure Types and Symptoms

MAOA uVNTR Genetic Variant and Major Depressive Disorder: A Systematic Review

Genetic polymorphisms of the serotonin transporter are not related with depression in temporal lobe epilepsy caused by hippocampal sclerosis

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