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Although it affects approximately 850 million people, and 1 in 60 deaths worldwide is caused by chronic kidney disease, there are very few treatments available
.
Understanding the genetic variants associated with the disease is an important step in drug development
This research provides one of the clearest pictures to date on the genetic basis of chronic kidney disease
.
"This is a key roadmap for understanding the mechanisms of chronic kidney disease," said lead researcher Katalin Susztak
.
"Fortunately, we have determined that some kidney disease genes can be targeted by existing drugs
Chronic kidney disease is a growing global health problem and an economic burden
.
According to the US Centers for Disease Control and Prevention (CDC), in 2018, the total medical insurance expenditures for patients with renal failure reached 36.
Susztak said: "The existing maps have shown the genetic regions of kidney disease inheritance, just like the original treasure map, but until now, we don't know where the treasure chest is or what it looks like
.
We The goal is to find the exact location of the treasure and open the box to see what’s inside
A key challenge in translating the genetic map into specific genes is that most genetic variants that can cause kidney disease change the way genes are regulated
.
In order to overcome this challenge, the researchers collected 659 human kidney samples-this is a large group
Next, the research team used a newly developed single-cell sequencing method to obtain gene expression and regulation data for each human kidney cell type
.
This allows researchers to identify key cell types where genetic mutations lead to gene mis-expression
Susztak said: "We have used these drugs for decades, but now we know why they are so effective
.
This research is a very important milestone for the field of nephrology and for the millions of patients currently affected by chronic kidney disease.
Mapping the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatments.
