AURORA, Colo. – A recently published study by a University of
Colorado School of Medicine researcher and her colleagues suggests potential
therapies for central core disease, a condition that can delay development of motor
skills such as sitting, crawling and walking in affected infants.
core disease is most often caused by a mutation in the gene that makes a
protein called ryanodine receptor type 1 (RyR1). RyR1 belongs to a family of
proteins that create channels for the controlled release of calcium ions from
stores within cells.
muscle cells to contract, calcium ions must be released from these internal
stores at the same time as potassium ions leave the cells. To relax the muscle
cells, calcium ions are pumped back into the internal stores and potassium ions
are taken back into the cell. Previous studies have established a role for RyR1
in the contraction of skeletal muscle, but the precise molecular details are
an article published this
month in eLife, Lee Niswander, PhD, professor of cell and developmental biology
and pediatrics, lead author M. Gartz Hanson, PhD, and colleagues studied mice
that had symptoms of central core disease due to a mutation in the RyR1 gene.
muscle weakness in these mice was caused by defects that hindered the release
of calcium ions from internal stores and resulted in leakage of potassium ions
from the muscle cells. The experiments reveal that a high-potassium diet
alleviates the symptoms of disease in the mice by increasing the amount of
potassium surrounding the muscle cells. Treatment with an existing drug called
glibenclamide also reversed the disease symptoms by reducing the leakage of
potassium ions from the cells.
authors found several genes involved in controlling potassium ion levels in
cells that could act as indicators of the presence of the disease. These
findings suggest that therapies targeting the leak of potassium ion levels in
muscle cells could minimize muscle damage in patients with central core
who is the corresponding author of the article, conducts research that focuses
on the genetic and cellular mechanisms that control embryonic development.
Additional authors from the CU School of Medicine are M. Gartz Hanson, PhD,
Jonathan Wilde, BS, Rosa Moreno, PhD, and Angela Minic, MS.
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