Two therapies cure rare genetic disease in mice

Most babies who are born with arginase deficiency — a rare genetic disease that leads to the accumulation of the amino acid arginine in the blood — don’t have symptoms at first. By the time they’re toddlers, however, their muscles stiffen. Seizures, tremors and developmental delays appear next, and over time the disease can lead to severe i ntellectual disabilities.UCLA scientists have developed two new approaches to deliver functioning copies of the arginase gene to mice with arginase deficiency. One approach, which must be administered every three days in mice, uses tiny nanoparticles to carry arginase RNA to the liver. The other uses a virus to bring arginase DNA to the liver; if timed correctly in 2- to 4-day-old mice a single dose prevented symptoms of arginase deficiency from ever appearing in the animals.“We’re at a time of innovation in genomics and genetics when we can bring new targeted therapies to people with inherited diseases,” said Dr. Gerald Lipshutz, a UCLA professor of surgery and the senior author of both studies. “These therapies may initially benefit the relatively small numbe r of people with rare or orphan diseases, but eventually they will become more widely used.”Arginase deficiency, which is caused by a missing or mutated version of the arginase gene, ARG1, affects about one of every 1 million babies born in the United States. Arginase is one of six proteins in the liver that play a role in breaking down and removing nitrogen from ...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news