Synthetic Biology and Genetic Engineering

Deafness is the most predominant hereditary sensorineural disease worldwide. Mostly, congenital deafness is non-syndromic hearing loss (NSHL) cases with no association with other signs and symptoms mainly caused by damage in the inner ear from different types of genetic mutations. In this study, the focus was on the mutations in mitochondrial DNA 12s rRNA region that leads to NSHL in UAE. To study the molecular information of mtDNA 12s rRNA in affected individuals, a group of 39 unrelated UAE patients with NSHL were selected for mutational screening using PCR and DNA sequencing techniques. As for controls, 50 normal-hearing individuals were collected. Our study revealed the presence of some mitochondrial DNA 12s rRNA mutations previously reported with deafness m.669 T>C and m.827 A>G. We have detected also some known polymorphisms. In addition, new nucleotide variations were detected in UAE affected people. The study of their impact on the 12s rRNA structure suggested a pathogenic effect.