Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis—a review

This review deals with podocyte proteins that play a significant role in the structure and function of the glomerular filter. Genetic linkage studies has identified several genes involved in the development of nephrotic syndrome and contributed to the understanding of the pathophysiology of glomerular proteinuria and/or focal segmental glomerulosclerosis. Here, we describe already well-characterized genetic diseases due to mutations in nephrin, podocin, CD2AP, alpha-actinin-4, WT1, and laminin β2 chain, as well as more recently identified genetic abnormalities in TRPC6, phospholipase C epsilon, and the proteins encoded by the mitochondrial genome. In addition, the role of the proteins which have shown to be important for the structure and functions by gene knockout studies in mice, are also discussed. Furthermore, some rare syndromes with glomerular involvement, in which molecular defects have been recently identified, are briefly described. In summary, this review updates the current knowledge of genetic causes of congenital and childhood nephrotic syndrome and provides new insights into mechanisms of glomerular dysfunction

Anatomy Education to the Public

Anatomy has a long-standing history with the public, dating back to the days of Ancient Greece. In recent years, anatomy has become a subject that again has come into the public forum, stepping out of the dissecting room with new teaching technologies and resources enabling learning about the body to become widespread. Engagement with the public is a growing area of academic activity as institutions become more accountable in demonstrating how they spend their funds and demonstrating the teaching and research they undertake. Anatomy lends itself to this engagement because everyone has anatomy and it directly links to their health in multiple facets of their lives. Many resources are available to engage public interest in anatomy, including plastic models, interactive media, crafts and 3D printing. There are important practical considerations relating to venues, funding, feedback and research. Engagement should be a fun and innovative event that enables participants to learn and enjoy themselves