New Delhi, Feb 12 (PTI) Researchers have created a comprehensive map of genes involved in the functioning of a kidney, revealing over a thousand genes that could serve as potential targets for treating kidney disease, according to a new study.
The study, published in the journal Science, also helped researchers at the University of Pennsylvania, US, devise a "genetic scorecard" for doctors to see which specific genes and variants could be most likely tied to a patient's kidney disease.
"Studying close to 1,000 human kidney samples and hundreds of thousands of kidney cells one by one was key to offering a clearer picture of what is going on 'behind the scenes'," co-senior author Katalin Susztak, a professor of renal-electrolyte and hypertension at the University of Pennsylvania, said.
Chronic kidney disease, in which a damaged kidney is unable to purify blood, can be caused due to varied reasons, including diabetes and high blood pressure.
The disorder can eventually lead to a patient requiring dialysis or a transplant, when the kidneys cannot cope with the body's demand for pure blood, removing waste and regulating electrolytes, the researchers explained.
"We provide a genetic blueprint for kidney function, enabling genetics-based prognostication and drug discovery," the authors wrote. The study analysed genetic data from over two million people.
The team also found that proximal tubule cells -- involved in re-absorbing water and electrolytes and other functions -- are a "hotbed" of disease-causing variants. Variants in these cells could hamper essential processes, potentially causing kidney disease.
"It's critical to pinpoint which cells are truly relevant for disease," first author Hongbo Liu, a former postdoctoral fellow in the division of renal-electrolyte and hypertension, the University of Pennsylvania, said.
"By creating single-cell profiles of thousands of kidney cells, we were able to 'zoom in' and find how certain genetic variants disrupt the regulatory machinery in key kidney cell types," Liu said.
(The above story is verified and authored by Press Trust of India (PTI) staff. PTI, India’s premier news agency, employs more than 400 journalists and 500 stringers to cover almost every district and small town in India.. The views appearing in the above post do not reflect the opinions of LatestLY)













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