Detection of Two Missense Substitutions in Gene EPM2B in Patients of Myoclonic Epilepsy from Balochistan
Detection of Two Missense Substitutions in Gene EPM2B in Patients of Myoclonic Epilepsy from Balochistan
Akram Ali Baloch1*, Adeel Ahmad2, Kaleem U. Kakar3, Sara Naudhani1, Samiullah Khan1, Agha Muhammad Raza3, Imrana Niaz Sultan1, Humaira Zahid4, Saadullah3 and Shakeela Daud1*
ABSTRACT
Epilepsy is categorized as third most common chronic brain disorder. It is regarded as an enduring tendency to produce seizures. A type of epilepsy known as lafora disease is autosomal recessive progressive myoclonus epilepsy (PME) with onset in teenage years of a progressively stubborn seizure disorder which brings declining mental function, dementia and finally death within ten years after the first symptoms. Lafora disease is defective in two well-known genes EPM2A and EPM2B. EPM2B (NHLRC1) consists of one large exon of 1188 bps. It encodes 395 amino acid protein called Malin comprising a zinc finger of the Ring-type in the N-terminal half and 6 NHL-repeat domains in C-terminal. In this study, four families were enrolled from Balochistan including two or more epileptic individuals aged between 10-24 years. Blood samples were collected and DNA extraction was performed by inorganic method. DNA was amplified by polymerase chain reaction and subsequently sequenced to confirm any genetic variability in the affected individuals of the families. As a result, two different missense mutations (c.830C>A resulting p.Ala277Glu and c.332C>T resulting p.Pro111Leu) in affected individuals in two of the families were identified. The nonexistence of mutations in EPM2B in the other two families could be due to presence of mutations in noncoding or non-tested loci/genes. This study may facilitate in finding prevalence of lafora disease in Balochistan province of Pakistan.
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