For example, researchers can use the model to predict what will happen to a protein when there’s a mistake in part of the regulatory code. Mutations in splicing instructions have already been linked to diseases such as spinal muscular atrophy, a leading cause of infant death, and some forms of colorectal cancer. In the new study, researchers used the trained model to analyze genetic data from people afflicted with some of those diseases. The scientists identified some known mutations linked to these maladies, verifying that the model works. They picked out some new candidate mutations as well, most notably for autism.
One of the benefits of the model, Frey said, is that it wasn’t trained using disease data, so it should work on any disease or trait of interest. The researchers plan to make the system publicly available, which means that scientists will be able to apply it to many more diseases.
The researchers built a mechanized rodent tanning salon and exposed mice engineered to lack the enzyme and normal mice to UV light three times a week for 20 weeks, enough to cause redness, but not to burn. At the end of the experiment, the engineered mice still had smooth, unblemished skin, while the normal mice were deeply wrinkled.
Granzyme B breaks down proteins and interferes with the organization and the integrity of collagen, dismantling the scaffolding — or extra-cellular matrix — that cells bind to. This causes structural weakness, leading to wrinkles. Sunlight appears to increase levels of the enzyme and accelerate its damaging effects.
It's the latest in a string of discoveries about the underlying structure of life and the building blocks by which it's made. Recently, scientists created new nucleotides that do not exist in nature and inserted them into a living organism. And now, this: DNA can look like just about anything and can be assembled into many shapes.
The Japanese woman is fine and her retinal implant remains in place. Researchers around the world are now hoping to test other stem-cell-derived tissues in therapy. Dr. Jeanne Loring from the Scripps Research Institute in La Jolla, Calif., expects to get approval within a few years to see whether neurons derived from stem cells can be used to treat Parkinson's disease."