Researchers at Massachusetts General Hospital (MGH) have come a step closer to using gene therapy for Huntington disease.
The team led by Kelvin J. A. Davies, professor of gerontology in the USC Davis School of Gerontology and professor of biological sciences in the USC College of Letters, Arts and Sciences has found that a form of the gene RCAN1, known as RCAN1-1L, is dramatically decreased in human brains affected by Huntington disease.
"Our findings allow for the possibility that controlled over-expression of RCAN1-1L might in the future be a viable avenue for therapeutic intervention in Huntington disease patients," said Davies.
The investigators also showed that increasing levels of RCAN1-1L rescues cells from the toxic effects of Huntington disease, a result that could someday lead to new avenues of treatment.
"Our discovery offers real hope and may even have wide-ranging implications for a variety of other important CAG repeat-related diseases," Davies said.
"It is important to keep in mind that these protective findings are in-vitro, meaning in cell cultures," said lead author Gennady Ermak, research associate professor at the USC Davis School of Gerontology.
"Further proof of protection by RCAN1-1L will be required in-vivo, or in actual Huntington disease patients," Ermak added.
The study appears in Journal of Biological Chemistry.