Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.

Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages. Pakistan has a rich history of autosomal recessive gene discovery related to non-syndromic hearing loss. Since the first linkage analysis with a Pakistani family that led to the mapping of the DFNB1 locus on chromosome 13, 51 genes associated with this disorder have been identified in this population. Among these, 13 of the most prevalent genes, namely CDH23, CIB2, CLDN14, GJB2, HGF, MARVELD2, MYO7A, MYO15A, MSRB3, OTOF, SLC26A4, TMC1 and TMPRSS3, account for more than half of all cases of profound hearing loss, while the prevalence of other genes is less than 2% individually. In this review, we discuss the most common autosomal recessive non-syndromic hearing loss genes in Pakistani individuals as well as the genetic mapping and sequencing approaches used to discover them. Furthermore, we identified enriched gene ontology terms and common pathways involved in these 51 autosomal recessive non-syndromic hearing loss genes to gain a better understanding of the underlying mechanisms. Establishing a molecular understanding of the disorder may aid in reducing its future prevalence by enabling timely diagnostics and genetic counselling, leading to more effective clinical management and treatments of hearing loss.

Biosynthesis of Graphene and Investigation of Antibacterial Activity of Graphene-parthenium hysterophorous Nanocomposite

Abstract There is a great interest to use carbon-based material like graphene and graphene oxide in biomedical applications due to its flexibility to be functionalized with bio-active molecules. Herein, graphene and graphene-based nanocomposites were biosynthesized by liquid-phase exfoliation of graphite using aqueous extract of Parthenium hysterophorous (P-H) as a surfactant. A set of five thin film samples of graphene was prepared from graphene suspension by vacuum filtration method. Samples were characterized by UV-vis spectroscopy, Raman spectroscopy, SEM, and XRD, which revealed successful synthesis of graphene. Graphene/P-H(G/P-H) nanocomposites comprising varied ratios of graphene and P-H were prepared and their antibacterial activity was investigated by agar well diffusion method. The experimental results indicated that G/P-H nanocomposite have higher antibacterial activity than graphene alone, and bioactivity of G/P-H nanocomposite was found to be controlled by the fraction of graphene in the composite.