Department Of Human Genetics And Molecular Medicine

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Author: search.filters.author.Satyanarayana, U.

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    Genetics of idiopathic generalized epilepsy: An overview
    (Neurology Society of India, 2014) Prasad, D.K.V.; Satyanarayana, U.; Munshi, Anjana
    Idiopathic generalized epilepsy (IGE) is a common type of epilepsy. Strong support for a genetic role in IGE comes from twin and family studies. Several subtypes of IGE have been reported but families often have members affected with different subtypes. Major advances have been made in the understanding of genetic basis of monogenic inherited epilepsies. However, most IGEs are complex genetic diseases and some susceptible IGE genes are shared across subtypes that determine subtypes in specific combinations. The high throughput technologies like deoxyribonucleic acid microarrays and sequencing technologies have the potential to identify causative genes or loci in non-familial cases.
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    Oxidative stress in the development of genetic generalised epilepsy: An observational study in southern Indian population
    (Journal of Clinical and Diagnostic Research, 2017) Prasad, D.K.V.; Satyanarayana, U.; Shaheen, U.; Surya Prabha, T.; Munshi, A.
    Introduction: Oxidative stress resulting from excessive generation of Reactive Oxygen Species (ROS) plays a significant role in neurodegeneration associated with seizures/epilepsy. Aim: To evaluate oxidative stress markers and antioxidant enzymes in Genetic Generalised Epilepsy (GGE) and to know the extent of oxidative stress induced by Anti-Epileptic Drugs (AEDs) with the time duration of treatment. Materials and Methods: In this case-control study, 310 GGE patients (male:female=203:107), who were on AED treatment (n=235) and 75 untreated patients (male:female=49:26) along with 310 age and sex matched healthy controls were recruited. Oxidative stress markers such as Nitric Oxide (NO), Malondialdehyde (MDA) and antioxidant enzyme activities namely Superoxide Dismutase (SOD), Glutathione Peroxidase (GPx) and Catalase (CAT) were measured spectrophotometrically. Results: Significantly higher levels of serum NO, MDA and low levels of plasma Total Antioxidant Capacity (TAC) were found in patients as compared to controls (p<0.001) whereas erythrocyte SOD, CAT and GPx activities were found to be significantly low in patients when compared to the control group (p<0.001). Statistically significant higher levels of NO, MDA and lower levels of SOD, CAT and TAC were observed in patients subgroup, who were on AEDs for more than >5 years compared to other groups (? 1 year and 1-? 5 years) (p=0.02, p=0.01, p=0.001, p=0.01 and p=0.05 respectively). Further, significant increase in the levels of NO, MDA and decreased activities of SOD, CAT were found in treated patients compared to untreated patients (p<0.05) denoting that additional oxidative stress induced by AEDs which results in seizure recurrence and drug intractability. Conclusion: Our study demonstrated that GGE patients have additional oxidative stress due to AEDs and decreased antioxidant enzyme activities causing an imbalance between oxidant and antioxidant status, which might contribute to the pathogenesis of GGE. ? 2017, Journal of Clinical and Diagnostic Research. All rights reserved.
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    Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy
    (Elsevier, 2014) Prasad, D.K.V.; Shaheen, U.; Satyanarayana, U.; Prabha, T.S.; Jyothy, A.; Munshi, A.
    The idiopathic generalized epilepsy (IGE) is a neurological disorder which accounts for approximately 30% of all epilepsy cases. Patients identified with IGE syndromes have pharmacoresponsive epilepsies without abnormal neurological symptoms, structural brain lesions and are of unknown origin. A genetic etiology to IGEs has been proposed. Gamma amino butyric acid (GABA), a major inhibitory neurotransmitter acts by binding to transmembrane GABAA and GABAB receptors of both pre- and postsynaptic neurons. Synapsin II (SynII), a neuron specific phosphoprotein plays a major role in synaptogenesis and neurotransmitter release. The present study was carried out with an aim to evaluate the association of GABRA6 (rs3219151) T>C and Syn II (rs37733634) A>G gene polymorphisms with IGE. Molecular analysis revealed that the frequency of 'CC' genotype and 'C'allele of GABRA6 (rs3219151) T>C gene polymorphism was significantly higher in IGE patients compared to healthy controls [CC vs. TT, ?2=26; p<0.001; Odds ratio=3.6 (95% CI; 2.1-5.9); C vs T, ?2=24.7; p<0.001; Odds ratio=1.78 (95% CI; 1.4-2.2)]. The frequency of 'GG' genotype and 'G' allele of the intronic polymorphism A>G in Syn II gene was also found to be significantly associated with the disease when compared to controls [GG vs AA, ?2=64.52; p<0.001; Odds ratio=7.37 (95% CI; 4.4-12.3); G vs. A, ?2=65.78; p<0.001; Odds ratio=2.57 (95% CI; 2.0-3.2)]. The generalized multifactor dimensionality reduction method was employed to detect gene-gene interactions. The gene-gene interaction at two loci involving GABRA6 and Syn II revealed a significant association [?2=36.6, p<0.001, Odds ratio=3.17 (95% CI; 2.2-4.6)] with IGE. Therefore, the present study clearly indicates that both GABRA6 (rs3219151) T>C and Syn II (rs37733634) A>G polymorphisms are important risk factors for the development of IGE in the South Indian population from Andhra Pradesh. The gene-gene interaction studies demonstrated significant interactive effects of these two loci in the development of the disease. ? 2014 Elsevier B.V.
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    Association of Serum Trace Elements and Minerals with Genetic Generalized Epilepsy and Idiopathic Intractable Epilepsy
    (Springer New York LLC, 2014) Prasad, D.K.V.; Shaheen,Uzma; Satyanarayana,U.; Prabha, T. Surya; Jyothy, Akka|Munshi, Anjana; Prasad, D.K.V.; Shaheen, U.; Satyanarayana, U.; Surya Prabha, T.; Jyothy, A.; Munshi, Anjana
    Certain minerals and trace elements are essential for the development of healthy nervous system. Altered serum levels of these elements may lead to the development of various diseases including epilepsy. The present study was designed to evaluate the association of serum calcium, magnesium, zinc and copper in the development of genetic generalized epilepsy [GGE; erstwhile known as idiopathic generalized epilepsy (IGE)] as well as idiopathic intractable epilepsy (IIE), in which seizures persist despite treatment with at least two or three antiepileptic drugs tolerated at reasonable dosage. 200 GGE patients and equal number of healthy controls were recruited for study with their written informed consent. The patients were further divided into responders and non-responders based on their response to antiepileptic drugs. Copper and zinc levels were assayed by atomic absorption spectrophotometer whereas calcium and magnesium were analyzed by Human Star 600 fully automated biochemistry analyzer. The patients with GGE had significant low levels of calcium, magnesium and zinc (1.85???0.33, 0.69???0.13?mmol/L and 11.33???3.32??mol/L respectively) and the corresponding values for controls were 2.27???0.22, 0.89???0.15, 12.71???3.24 (p?
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    Association of serum homocysteine and hs-CRP with idiopathic generalised epilepsy and duration of antiepileptic drug therapy
    (Journal of Clinical and Diagnostic Research, 2018) Prasad, D.K.V.; Satyanarayana, U.; Prabhakararao, T.S.; Surya Prabha, T.; Munshi, A.
    Introduction: Several human and experimental studies have revealed that chronic inflammation may play a vital role in neurodegenerative processes including epilepsy. There is accumulating evidence that inflammatory processes affect the pathophysiology of different epilepsy types. Aim: To assess the concentrations of Homocysteine (Hcy) and High Sensitivity C-Reactive Protein (hs-CRP) in Idiopathic Generalised Epilepsy (IGE) patients and their association with IGE and duration of the Anti Epileptic Drugs (AEDs). Materials and Methods: This case-control study consisted of 100 IGE patients (50 tonic?clonic, 15 absence and 35 myoclonic seizures) and equal number of healthy controls. Hcy levels were assayed by Centaur XP using ADVIA centaur Hcy; whereas hs-CRP levels by ELISA method using commercially available kits. Results: The Hcy and hs-CRP levels were significantly increased in both the patient groups (<18 years and >18 years). Significant difference in the levels of Hcy was observed between different epilepsy types of <18 years patients (p=0.01), whereas hs-CRP in >18 years patients (<0.05). Significantly elevated levels of hs-CRP were noticed in non-responders group compared to responders (<0.05). There was a positive correlation between hs-CRP and Hcy (R2=0.44 and p<0.001) and significant difference in the levels of Hcy and hs-CRP was observed in the patient subgroups who were on AEDs for different time periods (?1 year, 1- ?5 years and >5 years) (p=0.002 and p<0.05 respectively) since, AEDs can induce oxidative stress. Conclusion: Hyperhomocysteinaemia (Hyper-Hcy) can induce as well as promote oxidative stress and hence, it can be implicated in neurodegeneration in epilepsy. Elevated levels of hs-CRP in non-responders may be resulted by the contribution of inflammatory pathways in ictogenesis in epileptic tissue, causing intractable epilepsy. ? 2018, Journal of Clinical and Diagnostic Research. All rights reserved.