Nanoparticle-based Point of Care Immunoassays for in vitro Biomedical Diagnostics.

In resource-limited settings, the availability of medical practitioners and early diagnostic facilities are inadequate relative to the population size and disease burden. To address cost and delayed time issues in diagnostics, strip-based immunoassays, e.g. dipstick, lateral flow assay (LFA) and microfluidic paper-based analytical devices (microPADs), have emerged as promising alternatives to conventional diagnostic approaches. These assays rely on chromogenic agents to detect disease biomarkers. However, limited specificity and sensitivity have motivated scientists to improve the efficiency of these assays by conjugating chromogenic agents with nanoparticles for enhanced qualitative and quantitative output. Various nanomaterials, which include metallic, magnetic and luminescent nanoparticles, are being used in the fabrication of biosensors to detect and quantify biomolecules and disease biomarkers. This review discusses some of the principles and applications of such nanoparticle-based point of care biosensors in biomedical diagnosis.

Docking of human rhodopsin mutant (Gly90→Asp) with beta-arrestin and cyanidin 3-rutinoside to cure night blindness.

MOTIVATION: Rhodopsin is a visual pigment present in rod cells of retina. It belongs to GPCR family and involves photoisomerization of 11-cis-retinal to all-trans-retinal isomers, conformational changes in rhodopsin and signal transduction cascade to generate a nerve impulse. This signaling pathway has been targeted to eliminate the effect of a mutation (Gly90→Asp) responsible for abnormal activation of G-protein without retinal conformations in the absence of light leading to congenital night blindness. A theoretical model of rhodopsin with induced mutation has been deliberated in order to find potential ligands which can offset this mutational effect. The binding interactions between the target mutated rhodopsin model and potential ligands have been predicted with the help of molecular docking. The results indicated strong functional benefits of ligands as an inhibitor and an agonist for mutated rhodopsin model. Therefore, we propose a new visual cascade model which can initiate the normal signaling of rhodopsin mutant with the help of proposed ligands and can provide a hope for vision in future.

Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family.

BACKGROUND: Oculodentodigital syndrome (ODD; OMIM #164200) is a rare autosomal dominant disorder with pleiotropic effects. It is caused by mutation in gap junction protein α 1 (GJA1) gene which encodes connexion 43. ODD is characterised by symptoms i.e. craniofacial, neurologic, limb, ocular abnormalities, syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. OBJECTIVES: To study the Molecular Genetics of Oculodentodigital syndrome. PATIENTS/MATERIALS AND METHODS: Our current study includes a Pakistani family affected with ODD. Clinical evaluation revealed that this family shows typical form of ODD with Syndactyly type III. Mutations in GJA1 have been reported in ODD and also in syndactyly type III. In this study we sequenced the coding exons of GJA1 gene in affected and normal individuals of the family for mutation detection. RESULTS: Direct sequencing of the affected individuals showed a mutation at the nucleotide position 389 T>C. This mutation changed the codon 130 from Isoleucine to Threonine. Normal family members did not show this mutation. CONCLUSION: Our study showed no gross neurological upset with I130T mutation in GJA1 gene. This may present novel phenotypic outcome with the I130T. The study will help in better understanding of pathophysiology of oculodentodigital syndrome and type III syndactyly.