{"id":2593006,"date":"2023-12-08T19:00:00","date_gmt":"2023-12-09T00:00:00","guid":{"rendered":"https:\/\/platoai.gbaglobal.org\/platowire\/delayed-angiogenesis-as-a-potential-cause-for-autosomal-recessive-renal-tubular-dysgenesis-revealed-by-raas-deficient-organoids-findings-from-nature-communications\/"},"modified":"2023-12-08T19:00:00","modified_gmt":"2023-12-09T00:00:00","slug":"delayed-angiogenesis-as-a-potential-cause-for-autosomal-recessive-renal-tubular-dysgenesis-revealed-by-raas-deficient-organoids-findings-from-nature-communications","status":"publish","type":"platowire","link":"https:\/\/platoai.gbaglobal.org\/platowire\/delayed-angiogenesis-as-a-potential-cause-for-autosomal-recessive-renal-tubular-dysgenesis-revealed-by-raas-deficient-organoids-findings-from-nature-communications\/","title":{"rendered":"Delayed angiogenesis as a potential cause for autosomal recessive renal tubular dysgenesis revealed by RAAS-deficient organoids \u2013 Findings from Nature Communications"},"content":{"rendered":"

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Delayed angiogenesis as a potential cause for autosomal recessive renal tubular dysgenesis revealed by RAAS-deficient organoids – Findings from Nature Communications<\/p>\n

Renal tubular dysgenesis (RTD) is a rare genetic disorder characterized by underdeveloped or absent renal tubules, leading to severe kidney dysfunction. Autosomal recessive RTD is caused by mutations in genes involved in the renin-angiotensin-aldosterone system (RAAS), which plays a crucial role in kidney development. A recent study published in Nature Communications has shed light on a potential mechanism underlying this disorder, suggesting that delayed angiogenesis may contribute to the pathogenesis of autosomal recessive RTD.<\/p>\n

The study, conducted by researchers from the University of Zurich and the University Children’s Hospital Zurich, utilized organoids derived from human pluripotent stem cells to model kidney development. Organoids are three-dimensional structures that mimic the architecture and function of organs, providing a valuable tool for studying human diseases.<\/p>\n

In this study, the researchers generated organoids with mutations in genes associated with autosomal recessive RTD, specifically those involved in the RAAS pathway. They observed that these mutated organoids exhibited impaired development of renal tubules, similar to what is seen in patients with RTD. However, they also noticed a striking difference in the blood vessel network within the organoids.<\/p>\n

Angiogenesis, the process of blood vessel formation, is crucial for proper organ development. The researchers found that in the mutated organoids, angiogenesis was significantly delayed compared to normal organoids. This delay in blood vessel formation correlated with the impaired development of renal tubules, suggesting a potential link between delayed angiogenesis and autosomal recessive RTD.<\/p>\n

To further investigate this connection, the researchers manipulated the expression of genes involved in angiogenesis within the organoids. They found that by promoting angiogenesis, they were able to rescue the impaired tubule development in the mutated organoids. This finding provides strong evidence that delayed angiogenesis is indeed a contributing factor to the pathogenesis of autosomal recessive RTD.<\/p>\n

The study also identified specific signaling pathways that are dysregulated in the mutated organoids, leading to the delayed angiogenesis. One of these pathways is the VEGF (vascular endothelial growth factor) signaling pathway, which is known to play a critical role in blood vessel formation. The researchers found that the expression of VEGF and its receptors was significantly reduced in the mutated organoids, providing a potential explanation for the delayed angiogenesis observed.<\/p>\n

These findings have important implications for understanding the underlying mechanisms of autosomal recessive RTD and may pave the way for the development of novel therapeutic strategies. By targeting the dysregulated angiogenesis pathways, it may be possible to promote blood vessel formation and improve kidney development in patients with this disorder.<\/p>\n

In conclusion, the study published in Nature Communications has revealed delayed angiogenesis as a potential cause for autosomal recessive RTD. The use of RAAS-deficient organoids provided valuable insights into the pathogenesis of this disorder and identified dysregulated signaling pathways that contribute to impaired blood vessel formation. These findings open up new avenues for research and may ultimately lead to improved diagnosis and treatment options for patients with autosomal recessive RTD.<\/p>\n