ABSTRACT
Background and aim: SCN1A gene encodes for neuronal voltage-gated sodium-channel ?-subunit. Mutations in this gene are the major cause of severe myoclonic epilepsy of infancy [Dravet syndrome] and generalized epilepsy with febrile seizures plus [GEFS[+]]. GEFS[+] is a heritable benign type of epilepsy associated with febrile seizures which belongs to Idiopathic Generalized Epilepsies with a marked clinical and genetic heterogeneity. The main objective of this research is screening of mutations in scn1a gene in patients affected by GEFS[+] and Idiopathic Generalized Epilepsy [IGE]
Methods: Genetic counseling was carried out with 30 patients and their family. Peripheral blood samples were collected from patients and DNA was extracted using salting out method. Standard PCR on 16[th]-26[th] exons of scn1a gene was optimized by employment of specific primers. PCR products were analyzed by SSCP in denaturant condition and sequenced in the next step
Results: Results showed a 4289c>g missense mutation in one patient affected by idiopathic generalized epilepsy. This mutation changes the alanine residue in 1430 position to glycine [A1430G]
Conclusion: More studies are needed to identify the direct role of this mutation in pathogenesis, however, heterozygotic genotype of this mutation is consistent with dominant feature of inheritance of Epilepsy
ABSTRACT
Background and aims: Scorpion neurotoxins have been widely studied in recent years, including investigations into their physiological functions and pharmaceutical properties. Chlorotoxin is one of the most attended toxins that are used in brain cancer therapy at now. The aim of this study was to evaluate the sequencing and comparative -bioinformatic analysis of DNA coding chlorotoxin like peptide from Iranian scorpion mesobuthus eupeus
Methods: In this descriptive study Iranian scorpion Mesobuthus eupeus samples were isolated and the total RNA was extracted form venom glands. cDNA was synthesized by RT-PCR and then the sequence encoding a venom peptide with homology to chlorotoxin [named MeICT for Mesobuthus eupeus Iranian Chlorotoxin] was isolated and identified with specific primers for conserved sequences of chlorotoxin like toxins
Results: The sequence of MeICT was 102 nucleotides long and it was similar [88% identities] to that of chlorotoxin isolated from Leiurus quinguestriatus. The sequence identified in this study was compared with other similar venom sequences from other species of scorpion by CustalW server
Conclusion: Homologies analysis showed multiple differences in sequences that can be specific for Iranian subspecies of this scorpion. Furthermore, because of much similarity with chlorotoxin, MeICT may be used as therapeutic agent in glioma cancer