Experimenting on mice with a genetic change similar to that found in people with a rare inherited disease called Kabuki syndrome, Johns Hopkins scientists report that a very low-carbohydrate diet can “open up” DNA and improve mental function.
Along with providing a potential treatment for memory and other intellectual losses seen in people with Kabuki syndrome, the study’s findings also suggest a new way of thinking about a category of genetic diseases known as Mendelian disorders of the epigenetic machinery, the researchers say. In these disorders, a genetic mutation causes errors in chemical tags on DNA or associated proteins, which in turn affect the rate at which DNA makes other proteins.
In the case of the Kabuki syndrome-like condition in mice, the researchers found that those errors lead to a persistent but treatable decrease in new cell growth in a memory-forming part of the brain. Their study, they say, also adds to growing evidence that some forms of inherited intellectual disability may be reversible.
The results of their experiments are described the week of Dec. 19 in an early edition of PNAS.
“Mendelian disorders of the epigenetic machinery affect how cells ‘package’ and use DNA, so they tend to have complicated and far-reaching effects,” says lead investigator Hans Bjornsson, M.D., Ph.D., assistant professor of pediatrics and genetics in the Johns Hopkins University School of Medicine’s McKusick-Nathans Institute of Genetic Medicine. “Finding a way to ease some of the symptoms in this group of rare disorders suggests that other such inherited disorders of the histone protein machinery may be treated in a similar manner.” Histones are specialized proteins that DNA wraps around to keep itself organized; the wound-up DNA and histones together are known as chromatin. Only by forming chromatin can several feet of DNA fit inside the tiny command centers or nuclei of each cell. But for a cell to read the DNA and put it to use making new proteins of its own, the chromatin must temporarily open up… Read More>>
Source: Medical Xpress
