Japanese scientists have discovered that both a little bit of solution containing urea and gene replacement can treat a rare, fatal childhood disease and may make mouse embryos transparent in at least two weeks.
Gene therapy plus an injection of copper dramatically improved survival in mice with a condition that mimics the often fatal childhood disorder Menkes disease, according to a study by researchers at the National Institutes of Health (NIH.)
Even with our best efforts to date, mortality from this disease remains high, said Dr. Stephen Kaler, head of the Unit on Human Copper Metabolism in the Molecular Medicine Program at the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
When scientists take photos of their mouse embryos, one of the biggest problems they face is the lack of transparency of the photos that prevent them from seeing deep inside tissues, according to the study.
These pre-clinical findings in a mouse model of the disease suggest that gene therapy may be a way to help those human infants with Menkes disease who are the most difficult to treat at present, Kaler added.
Scientists at RIKEN Brain Science Institute in Japan have found that a Scale solution can help researchers look inside tissue without making destructive insertions.
In their study, Kaler and his colleagues tested a treatment to add a normal copy of ATP7A to mice with a malfunctioning copy of the gene. Their results suggest that one day it might be possible to provide Menkes disease patients with a functioning ATP7A gene.
Menkes disease occurs when the gene ATP7A malfunctions, ordinarily a gene that helps the body process the trace metal copper, the study's authors said.
The disease affects 1 out of 50,000 to 100,000 newborns each year, the vast majority of them boys, according to Kaler, the study’s senior author.
Current treatment consists of daily copper injections until a child is three years old, Kaler explained. The disorder varies in severity, depending on the degree to which the gene is disabled.
If detected early, there is some chance that the copper procedure will work, although cases of more poorly functioning copies the gene often end in early death before the age of three.