Scientists from Columbia University have found that the most common type of glomerulonephritis (damage to the glomeruli in the kidneys by the immune system) is associated with mutations in 16 regions of the genome. Research published in the journal Nature Genetics.
Glomeruli are kidney structures that are responsible for filtering the liquid part of the blood and producing primary urine. They are damaged by IgA nephropathy, which can lead to the development of kidney failure. This disease in different countries is from 10 to 50% of all types of glomerulonephritis.
In a recent study involving nearly 40,000 people, scientists identified 16 regions of the genome associated with immunoglobulin A (IgA) nephropathy. Their analysis shows that the source of the disease is outside the kidneys and is related to the immune system.
Despite the prevalence of this disease, diagnosis is difficult as it requires kidney biopsy, an invasive procedure with risks. Nearly 200 scientists from 100 different institutions worked for ten years to collect sufficient data. They sent samples from patients with biopsy-proven IgA nephropathy to scientists at Columbia University.
The study supported the hypothesis that the immune system plays a key role in the progression of IgA nephropathy and could lead to the development of the first drugs to act on its cause. Scientists have already identified two drugs that may have the potential to treat the disease and have developed a genetic risk profile that could help identify patients at highest risk of developing kidney failure.
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