Microsatellite instability and copy number variation in mitochondrial Displacement loop region in Juvenile myoclonic epilepsy

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Original Article

Author Details : Maniyar Roshan Zameer, Doshi M.A., Parveen Jahan, Parthasaradhi G, Shivannarayan G

Volume : 3, Issue : 3, Year : 2017

Article Page : 113-119

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Abstract

Introduction: Microsatellites undergo mutations at a very high rate ranging from 10-6 to 10-2 per generation, called as Microsatallite Instability (MSI). Such mutations are commonly caused by the loss of DNA mismatch repair (MMR). In the present study we analyzed the frequency of Microsatellite Instability in the Hypervariable regions (HVR1 and HVR2) of Mitochorial D loop segments which the noncoding control region of human mitochondrial DNA (mtDNA) in Juvenile Myoclonic Epilepsy (JME) patients from South Indian population. Mitochondrial genetic changes at hotspots are considered as a core molecular step of mutations in various types of epilepsy and cancers.
Objective: To analyze hypervariable region 1 and 2 (HV1 and HV2) of mtDNA D-loop region and to establish a new mutation database of mtDNA in South Indian population.
Materials and Method: Thirty five Juvenile Myoclonic Epilepsy patients were investigated from three states of south India. Genomic DNA was extracted and Polymerase Chain Reaction-Single Strand Conformation Polymorphism (PCR-SSCP) was performed by using standard primers to identify microsatellite instability.
Result: We observed 29 different mutations in HVR-1 and found 13 mutations in HVR-2 including MSI, Sequence mismatch (SMM), deletion and insertions in the mtDNA D-loop region. The most frequent deletion involved was a dinucleotide repeat of CA.
Conclusions: MtDNA mutations are associated with the mitochondria microsatellite instability (mtMSI), may play a specific role in the genetic based epilepsy. Further investigations should focus on the tRNAs and rRNAs loci in the mtDNA mitochondrial genome to understand the mechanism of mtDNA and nDNA.

Keywords: MSI, D-loop, CNVs, mtDNA, JME, Hypervariable region

How to cite : Zameer M R, M.a. D, Jahan P, Parthasaradhi G, Shivannarayan G, Microsatellite instability and copy number variation in mitochondrial Displacement loop region in Juvenile myoclonic epilepsy. IP Indian J Neurosci 2017;3(3):113-119

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