Cause of Kidney Failure Identified

A new study has brought into light that mutations in INF2 gene play a key role in the cause of kidney failure.

A new study has brought into light that mutations in INF2 gene play a key role in the cause of kidney failure. The findings may aid with screening, prevention and therapy.

Focal segmental glomerulosclerosis (FSGS) attacks the kidney's filtering system and causes serious scarring.

Acute Renal (Kidney) Failure- Causes, Symptoms, Diagnosis, Treatment and Complications
Acute renal failure is the sudden cessation of the functioning of kidneys, that can be due to reduced renal blood flow, damage to renal tissues.

One of the genes mutated in patients with hereditary, autosomal dominant FSGS is the INF2 gene, initially discovered by Elizabeth J. Brown and Martin R. Pollak (Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR.

The investigators screened 54 families (78 patients) with a history of autosomal dominant FSGS and detected mutations in the INF2 gene in 17 pc of them. The mutations were located in one particular region of the gene that corresponds to a part of the INF2 protein that interacts with podocyte proteins.

This information might shed light on the mechanism behind INF2's involvement in the development of FSGS and could be helpful as researchers design drugs to prevent or treat the disease. One of these mutations appeared in only one of 84 patients with sporadic (nonhereditary) FSGS.

Quiz on Kidney
The kidneys are two bean-shaped organs, each about the size of a fist, and are located just below the rib cage, one on each side of your spine.

Healthy kidneys filter about half a cup of blood every minute, removing wastes and extra water to make urine. The urine flows from the kidneys to the bladder through two thin tubes of muscle called ureters, one on each side of your bladder. The bladder stores urine. The kidneys, ureters, and bladder are partof the urinary tract.

Anatomy of Urinary System
Animation & slides showing anatomy of urinary system and the role of kidneys in getting rid of the waste products and excess fluid from our body to keep us healthy.

kidneys remove wastes and extra fluid from your body. Kidneys also remove acid that is produced by the cells of your body and maintain a healthy balance of water, salts, and minerals-such as sodium, calcium, phosphorus and potassium-in your blood ().

Without this balance, nerves, muscles, and other tissues in the body may not work normally.

Kidneys also make hormones that help

Control your blood pressure
Make red blood cells
Keep your bones strong and healthy

"INF2 is a major gene of autosomal dominant FSGS. Screening for INF2 mutations needs to be strongly considered in patients with an autosomal dominant familial history of FSGS," the authors concluded.

The study will be published in an upcoming issue of the Journal of the American Society Nephrology (JASN).

Source-ANI

Scientists Find Cell Responsible for Kidney Failure in Diabetics
A cell in the kidney that could be key to understanding why diabetes leads to kidney failure has been identified by researchers.