Corpora amylacea deposition in the hippocampus of patients with mesial temporal lobe epilepsy: A new role for an old gene.

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dc.contributor.authorDas, Abhijit
dc.contributor.authorBalan, Shabeesh
dc.contributor.authorMathew, Anila
dc.contributor.authorRadhakrishnan, Venkataraman
dc.contributor.authorBanerjee, Moinak
dc.contributor.authorRadhakrishnan, Kurupath
dc.date.accessioned2012-06-12T06:25:53Z
dc.date.available2012-06-12T06:25:53Z
dc.date.issued2011-05
dc.description.abstractBACKGROUND: Mesial temporal lobe epilepsy (MTLE) is the most common medically refractory epilepsy syndrome in adults, and hippocampal sclerosis (HS) is the most frequently encountered lesion in patients with MTLE. Premature accumulation of corpora amylacea (CoA), which plays an important role in the sequestration of toxic cellular metabolites, is found in the hippocampus of 50–60% of the patients who undergo surgery for medically refractory MTLE-HS. However, the etiopathogenesis and clinical importance of this phenomenon are still uncertain. The ABCB1 gene product P-glycoprotein (P-gp) plays a prominent role as an antiapoptotic factor in addition to its efflux transporter function. ABCB1 polymorphism has been found to be associated with downregulation of P-gp expression. We hypothesized that a similar polymorphism will be found in patients with CoA deposition, as the polymorphism predisposes the hippocampal neuronal and glial cells to seizure-induced excitotoxic damage and CoA formation ensues as a buffer response. MATERIALS AND METHODS: We compared five single nucleotide polymorphisms in the ABCB1 gene Ex06+139C/T (rs1202168), Ex 12 C1236T (rs1128503), Ex 17-76T/A (rs1922242), Ex 21 G2677T/A (rs2032582), Ex26 C3435T (rs1045642) among 46 MTLE-HS patients of south Indian ancestry with and without CoA accumulation. RESULTS: We found that subjects carrying the Ex-76T/A polymorphism (TA genotype) had a five-times higher risk of developing CoA accumulation than subjects without this genotype (Odds ratio 5.0, 95% confidence intervals 1.34-18.55; P = 0.016). CONCLUSION: We speculate that rs1922242 polymorphism results in the downregulation of P-gp function, which predisposes the hippocampal cells to seizure-induced apoptosis, and CoA gets accumulated as a buffer response.en_US
dc.identifier.citationDas Abhijit, Balan Shabeesh, Mathew Anila, Radhakrishnan Venkataraman, Banerjee Moinak, Radhakrishnan Kurupath. Corpora amylacea deposition in the hippocampus of patients with mesial temporal lobe epilepsy: A new role for an old gene. Indian Journal of Human Genetics. 2011 May; 17(Suppl 1): 41-47.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/138983
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3125046/en_US
dc.subjectABCB1en_US
dc.subjectcorpora amylaceaen_US
dc.subjectepilepsyen_US
dc.subjectgeneticsen_US
dc.subjecthippocampal sclerosisen_US
dc.subjectmesial temporal lobe epilepsyen_US
dc.subjectP-glycoproteinen_US
dc.subjectrefractory epilepsyen_US
dc.titleCorpora amylacea deposition in the hippocampus of patients with mesial temporal lobe epilepsy: A new role for an old gene.en_US
dc.typeArticleen_US
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