Volume : 3
Issue : 3
Online ISSN : 2581-916X
Print ISSN : 2581-8236
Article First Page : 113
Article End Page : 119
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