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1

An association of the MTHFD1 c.1958G>A polymorphism in Polish women with epilepsy

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Rozycka A.1, Mostowska A.1, Dorszewska J.2, Jaroszewska-Kolecka J.2, Sniezawska A.2, Jagodzinski P.1 A., Mostowska A., Dorszzewska J., Jaroszewska-Kolecka J., Sniezawska A., Jagodzinski P.
Acta Neurobiologiae Experimentalis
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2009
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tom 69
|
nr 1
The genetic basis of epilepsy has been substantiated by numerous examples of familial forms of epileptic syndromes. Among these, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and idiopathic generalized epilepsy (IGE) can be mentioned. Most previous studies of epilepsy genetics have implicated ion channel genes. Other studies have noted an increased frequency of the c.677C>T MTHFR gene polymorphism in women with IGE. This study was designed to explore an association of three polymorphisms of the key genes encoding enzymes involved in folate and methionine metabolism with the epileptic disorders in Polish women. The study includes 15 female patients with ADNFLE, 75 female patients with IGE and 110 unrelated healthy women used as a control. In each group the allele and genotype frequencies of MTHFR c.677C>T, MTR c.2756A>G and MTHFD1 c.1958G>A polymorphisms were determined using PCR-RFLP analyzes. Our results supported the association between MTHFR c.677C>T polymorphism and IGE in women, since frequencies of TT homozygotes in IGE female patients were different from the controls as compared with CC homozygotes (P=0.033). However, no statistical differences in the allele frequency and in the proportion of TT and CT versus CC genotypes in these patients and the controls were observed. Otherwise, inclusion of ADNFLE female patients signifi cantly altered genotype frequencies of MTR c.2756A>G polymorphism (GG vs. AA: OR=5.818; P=0.0157). However, statistical differences in allele frequencies of MTR c.2756A>G polymorphism were observed when both idiopathic epilepsies were analyzed with the control group (P=0.0153) as well as when IGE patients were compared separately with the healthy women (0.0388). Similar results were obtained for MTHFD1 c.1958G>A polymorphic transition, although, the differences in allele and genotype frequencies remained statistically signifi cant for each group of the patients as compared to the controls. We found that the 1958A allele appeared with a signifi cantly higher frequency in the IGE subgroup and in both idiopathic epilepsies than in the controls (P=0.0176 and P=0.011, respectively). Moreover, as compared with the 1958GG genotype, the AA and combined GA+AA genotypes were associated with a signifi cantly increased risk of IGE (AA vs. GG: OR=2.647; P=0.0245 and GA+AA vs. GG: OR=2.218; P=0.0136) as well as IGE and ADNFLE considered together (AA vs. GG: OR=2.625; P=0.0197 and GA+AA vs. GG: OR=2.354; P=0.0068). An association between the c.1958G>A polymorphism of the MTHFD1 and IGE was evidenced suggesting a signifi cant role of the methyl cycle in the women with idiopathic epilepsies.
2

Homocysteine, cysteine and gluthatione in epileptic patients treated with antiepileptic drugs

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Bugaj R., Urbanska N., Dorszewska J., Sniezawska A., Przedpelska-Ober E., Kozubski W.
Acta Neurobiologiae Experimentalis
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2011
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tom 71
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nr 1
Today, epilepsy is regarded as the most common neurological disease. AEDs pharmacotherapy, used to treat patients with epilepsy affect plasma concentrations of sulfur amino acids: Hcy, Cys and GSH. These are the main intracellular thiols, whose anabolic and catabolic pathways are closely linked. Through transsulfuration of Hcy arises Cys, who further participates in the synthesis of GSH. It has been shown that the increase of plasmatic Hcy in patients with epilepsy taking AEDs can be affected by a number of factors including diet, type of pharmaceutical preparations taken, the duration of treatment, and genetic factors. The study group consisted of 63 patients with idiopathic epilepsy, 28 women and 35 men, aged from 18 to 65. Among patients with epilepsy 55 people, 24 women and 31 men, aged from 18 to 65 were treated with various AEDs, and 8 patients, 4 women and 4 men, aged between 18 and 65 were before the inclusion the anticonvulsant therapy. A preliminary analysis in our studies was conducted on 38 people from the control group, 28 women and 10 men, aged from 22 to 67, without symptoms of dementia or any other neurological disorders. The concentration to sulfur amino acids (Hcy, Cys, GSH) in plasma has been identified by HPLC (high performance liquid chromatography) with electrochemical detection. The analysis was performed in Thermo Hypersil BDS C18 column (250x4, 6x5 µm) using phosphate buffer with 12.7% acetonitrile as mobile phase for the determination of Hcy and GSH, and phosphate buffer with 10% acetonitrile as buffer mobile phase for the determination of Cys. Studies show that AEDs pharmacotherapy in patients with epilepsy leads to a significant increase in Hcy- treated in polytherapy, especially in the application of VPA and the long-term treatment. In addition, in patients with epilepsy treated with VPA in monotherapy, plasma Cys concentration is significantly reduced. Moreover, it was observed that long-term AEDs treatment and mild HHcy (Hcy>16 µmol/l) in patients with epilepsy leads to a significant increase in GSH concentration. It can be assumed that patients with epilepsy using AEDs are exposed to high oxidative stress, which is an index for the observed higher concentrations of GSH, the main intracellular antioxidant. It also seems that only the combined supplementation of vitamins B and FA in patients with epilepsy treated with AEDs may contribute to the effective regulation of Hcy- the risk factor for vascular diseases.
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