Corpora Amylacea and Epilepsy: A Study on Genetic Factors
Author Information
Author(s): Das Abhijit, Balan Shabeesh, Mathew Anila, Radhakrishnan Venkataraman, Banerjee Moinak, Radhakrishnan Kurupath
Primary Institution: R. Madhavan Nayar Center for Comprehensive Epilepsy Care, Sree Chitra Tirunal Institute for Medical Sciences and Technology
Hypothesis
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.
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.
Supporting Evidence
- Subjects carrying the Ex-76T/A polymorphism had a five-times higher risk of developing CoA accumulation.
- The mean age at surgery was significantly higher for the MTLE-HS-CoA+ patients compared to the MTLE-HS-CoA- patients.
- Patients in the MTLE-HS-CoA+ group were more likely to have the TA genotype at ABCB1 Ex -76T/A compared to those in the MTLE-HS-CoA- group.
Takeaway
This study looked at how certain genetic changes might lead to a buildup of harmful substances in the brains of people with epilepsy, which could make their condition worse.
Methodology
We compared five single nucleotide polymorphisms in the ABCB1 gene among 46 MTLE-HS patients with and without CoA accumulation.
Potential Biases
The study used stringent patient selection criteria to maintain genotype homogeneity, which may limit generalizability.
Limitations
The association found in our study is modest, most likely due to the small sample size.
Participant Demographics
46 patients (26 male and 20 female) of south Indian ancestry with pathologically proven HS.
Statistical Information
P-Value
0.016
Confidence Interval
1.34-18.55
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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