Iram Javed

Srudy Of Gamma-Aminobutyric Acid A Receptor Delta Subnuit Gene Mutations Involved In Generalized Epilepsy With Febrile Seizures Plus (GEFS+) Patients in Punjab - 2012

World health organization (WHO) reports that neurological disorders affect one billion people worldwide, including 50 million affected by epilepsy. Epilepsy is a common neurological disorder characterized by recurrent, periodic, spontaneous and unprovoked seizures. Generalized epilepsy with febrile seizure plus (GEFS+) is an autosomal dominant disorder and a heterogeneous familial condition in which family members express febrile seizures initially, and then show multiple phenotypes of myoclonic epilepsy including partial or absence seizures and generalized tonic conic seizures. Molecular genetics techniques have identified various GEFS+ associated mutations in many genes i.e. sodium channel genes (SCN2A, SCN1A, and SCN1B) and some GABA receptor genes (GABRG2 and GABRD). GABAA receptors are the principal intermediaries of fast inhibitory neurotransmission in the eNS and have been frequently reported to playa significant role in a number of seizures. GABRD gene encodes the delta (8) subunit and is usually located in extrasynaptic GABAA receptors. The present study was aimed to investigate coding regions of GABRD gene for analyzing the mutations involved in epilepsy. Blood samples of unrelated true representative ofGEFS+ were collected from psychiatry departments of different hospitals of Lahore. DNA were extracted with the standard protocol and amplifications of the GABRD regions were done with specially designed primers. Later on, sequencing of target fragments was carried out. Sequences were analyzed through BioEdit software and then aligned with the help of custalW2 software. Out of 14 GEFS+ patients, only 3 were identified with a novel heterozygous transition mutation in intron 5. Further study, with much larger sample number, is required to revise the effects of this polymorphism and accurately identifying the associated factors. There is a need to explore the other gene mutations causing epilepsy in local population of Punjab and Pakistan that will ultimately help to develop genetic counseling strategies, gene therapies and prenatal diagnostic procedures for the population of Pakistan.

Institute of Biochemistry & Biotechnology


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