Simplification of gold nanoparticle synthesis with low cytotoxicity using a greener approach: opening up new possibilities.

Gold nanoparticles (AuNPs) have diverse applications in the diagnosis and treatment of ailments. This study describes an extremely simplified synthesis of AuNPs using antioxidant-rich pollen extract as a local natural source. Ultraviolet-visible (UV-vis) spectroscopy, X-ray diffraction (XRD), Fourier-transform infrared spectroscopy (FTIR) and transmission electron microscopy (TEM) were used to characterize the synthesized AuNPs; strong UV-vis absorption at 534 nm confirmed their formation, the XRD pattern showed the presence of a crystalline structure, and TEM images showed them to be spherical nanoparticles with an average size of 9.3 ± 2.9 nm. As synthesized AuNPs remained stable for up to two months under laboratory conditions without any sedimentation or change in the absorption value, presumably due to the protection afforded by the capping agents from pollen. AuNPs revealed low toxicity effects on MCF-7 and HUVECs cell lines (with an IC50 value of ∼400 µg mL-1 for both the cell lines). The proposed method did not use any hazardous materials or high-energy consuming devices; thus this efficient protocol may be adapted for large-scale production using local resources.

A novel variant in C5ORF42 gene is associated with Joubert syndrome.

Joubert syndrome (JS) disease is a clinically and genetically heterogeneous disorder with mutations in more than 35 genes involved in its pathogenicity. Molecular genetic methods including next generation sequencing (NGS) and Sanger sequencing are effective techniques used for identifying rare genetic variants that have a strong effect on disease pathogenesis. In this study, we tested a large pedigree with a history of several affected members with JS. At first the proband was sequenced by NGS technique then, confirmed by sanger sequencing method. After this, all available members of the pedigree were subjected to molecular analysis by sanger sequencing technique. The results of this study showed a novel variant in the C5ORF42 gene c.3080A > T: p. D1027V leading to a substitution of a valine for aspartic acid (D1027V) and may be associated with JS. This variant was present in proband compatible with autosomal recessive pattern. Also this variant was present in all parents (both father and mother) of affected individuals in a heterozygous state. It seems that mutations in C5ORF42 gene are associated with JS. However, the substantial mechanism requires further investigation.