Recessive mutations in a gene called phospholipase C epsilon or PLCE1 could result in a to a severe, early-onset form of kidney disease and renal failure in children, a previously unknown cause. This finding was disclosed by scientists at the University of Michigan Medical School.

Identification of the mutual gene is of interest to the scientists as PLCE1 affects the development of podocytes that are specialized cells playing a vital role in ability of the kidney when it comes to removing waste products from blood and retaining important blood proteins.

From Sciencedaily.com:

Some types of nephrotic syndrome can be treated with steroids or other drugs, but steroid-resistant forms of the disease as a rule do not respond to treatment. Untreated nephrotic syndrome often causes severe scarring and a condition called focal segmental glomerulosclerosis (FSGS), which progresses about 50 percent of the time to end-stage kidney disease and renal failure.

PLCE1 is the seventh gene scientists have found to be involved in different types of steroid-resistant nephrotic syndrome, and the second gene that is expressed in podocytes — specialized cells with octopus-like tentacles surrounding the glomerulus.

Podocytes are currently under intensive study, because scientists believe they play a vital role in the blood filtration process. Identifying genes and proteins that are active in podocytes will help scientists understand how they work.

“We found that PLCE1 is expressed in developing and mature podocytes,” says Hildebrandt. “Most of the PLCE1 mutations we identified apparently prevented podocytes from developing normally in the embryo, so defects were present at birth. A milder mutation seemed to interfere with repair mechanisms in the glomerulus, so defects didn’t show up until later in life.”

Friedhelm Hildebrandt, M.D., the U-M’s Frederick G L Huetwell Professor for the Cure and Prevention of Birth Defects, remarked that this is the first report of infants with two mutuations in recessive gene for steroid-resistant nephrotic syndrome that nevertheless responded to treatment with steroids.

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