Rare genetic disorder reversed
The rare genetic disorder cystinosis has been successfully reversed in mice using stem cell transplantation, scientists in California say.
The procedure halted the cystine accumulation responsible for the disease and the cascade of cell death that follows, the Scripps Research Institute in La Jolla, Calif., announced in a release Friday.
After meeting the children who suffer from this disease, like an 18-year-old who has already had three kidney transplants, our team is committed to moving toward a cure for cystinosis, said principal investigator Stephanie Cherqui.
This study is an important step toward that goal.
Cystine is a byproduct of cells the body no longer needs, Cherqui said. Normally, cystine is shunted out of cells, but in cystinosis a gene defect causes it to build up, forming crystals especially damaging to the kidneys and eyes, she said.
The disease is rare, affecting an estimated 500 people in the United States and 2,000 worldwide. End-stage kidney failure is inevitable, Cherqui said.