2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The nephrocyte actin and tubulin cytoskeleton networks model slit diaphragm structural defects pertaining to podocyte pathogenesis

The nephrocyte actin and tubulin cytoskeleton networks model slit diaphragm structural defects pertaining to podocyte pathogenesis

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This document discusses the relationship between nephrotic function, the actin and tubulin cytoskeletons, and their shared binding proteins in the nephrocyte model system. The nephrocyte, which is the equivalent of a human podocyte in Drosophila melanogaster, was used to determine the effects of knockdown of various binding proteins on the actin and tubulin cytoskeleton networks. One of the most significant phenotypes observed was the knockdown of the Pickled Eggs (Pigs) gene. Immunofluorescent staining was used to visualize morphological differences in actin, tubulin, dual actin and tubulin binding protein, and insulin signaling genes.<br /><br />The information obtained from studying the nephrocyte model system can be used to aid further research into understanding and finding solutions for renal diseases such as Nephrotic Syndrome and Diabetic Nephropathy. The document also provides a list of actin and tubulin binding proteins previously related to kidney diseases, as well as genes related to Nephrotic Syndrome.<br /><br />The document highlights the importance of studying the actin and tubulin cytoskeletons and their binding proteins in podocyte physiology. It discusses the effects of knockdown of Tubulin genes and insulin signaling pathway genes on the structure of the slit diaphragm, the actin cytoskeleton, and the tubulin cytoskeleton. It also emphasizes the relevance of using Drosophila melanogaster as a model organism to study podocyte defects related to actin and tubulin cytoskeletons.<br /><br />Overall, this document provides valuable insights into the role of actin and tubulin cytoskeletons and their binding proteins in podocyte pathogenesis and sheds light on potential targets for therapeutic intervention in renal diseases.

Asset Subtitle

Presenting Author - Megan Delaney, BS;

Meta Tag

Identification of Disease Genes

Model Organisms

Structure/Function

Presenting Author Megan Delaney, BS

Keywords

nephrotic function

actin cytoskeleton

tubulin cytoskeleton

binding proteins

nephrocyte model system

Pickled Eggs gene

immunofluorescent staining

renal diseases

insulin signaling genes

Drosophila melanogaster