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Genetic cause of neurological disease identified

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.

A Mutated Protein Causes Spinocerebellar Ataxia
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