Researchers from Wake Forest University School of Medicine and the First Faculty of Medicine of Charles University in Prague, Czech Republic, have identified a new genetic cause of inherited kidney disease. This discovery is an important step towards developing targeted treatments for this condition.
The study, published in Kidney International, found mutations in a gene that encodes a protein involved in lipid transport. These mutations lead to the deposition of lipoprotein in the middle (medulla) of the kidney, resulting in chronic kidney disease.
Dr. Anthony J. Bleyer, professor of nephrology at Wake Forest University School of Medicine and corresponding author of the study, has been studying families with inherited kidney disease for over two decades. He has collected DNA samples from more than 500 families in his quest to understand the genetic causes of this condition.
Dr. Bleyer has been collaborating closely with Dr. Stanislav Kmoch from the First Faculty of Medicine of Charles University for the past ten years. Together, they have identified a total of five different causes of inherited kidney disease that affect thousands of individuals.
In this study, the researchers focused on a large family from New England. They compared the DNA of affected family members with unaffected family members and discovered a small mutation in the APOA4 gene. This gene encodes the protein APOA4, which is responsible for carrying lipids in the circulation. Surprisingly, this mutation in a protein involved in lipid transport was found to cause kidney disease.
Upon further investigation, the researchers identified two more families with the same APOA4 mutation in the Wake Forest registry. They also found that these three families were distantly related. Additionally, two other families from the registry were found to have a different mutation in the APOA4 gene.
In all five families, family members with the APOA4 mutation had kidney disease, while those without the mutation did not. This confirms that the APOA4 gene mutation is responsible for the development of inherited kidney disease in these families.
Dr. Stanislav Kmoch expressed surprise at the findings, as APOA4 is expressed in the intestinal epithelium and not in the kidney. However, the results of this study provide valuable insights into the underlying mechanisms of inherited kidney disease and open the door for further research into targeted treatments.
This groundbreaking discovery brings hope to individuals with inherited kidney disease, as it paves the way for personalized treatments based on an individual’s genetic profile. By understanding the specific genetic causes of this condition, researchers can develop therapies that directly target the underlying mechanisms and prevent the progression of kidney disease.
Further studies are needed to explore the potential therapeutic implications of this new discovery. However, this research marks a significant advancement in the field of inherited kidney disease and brings us closer to finding effective treatments for this debilitating condition.
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1. Source: Coherent Market Insights, Public sources, Desk research
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