Using the genetic information of two different families with three generations of disease, researchers have identified a new mutation responsible for a degenerative and ultimately fatal movement disorder. Through induced pluripotent stem cell techniques, researchers also grew neurons from one patient in the laboratory to be used in future experiments.
The mutation (red rectangle) changes the way the protein (green) opens and closes a pathway through neurons’ cell membrane (blue). This change alters the way Calcium (Ca+) moves between the outside and inside of cells and is responsible for patients’ disease symptoms.
Credit: Hiroshima University