A gene finding links severe canine juvenile epilepsy to mitochondrial dysfunction

Researchers found a cause for severe epilepsy resulting in death in Parson Russell Terrier puppies at a few months of age. A change in the PITRM1 gene can lead to a dysfunction of mitochondria, the cellular energy pumps. Concurrently, amyloid-beta accumulation and widespread neurodegeneration associated with Alzheimer’s disease were identified in the puppies’ brains. Changes to the PITRM1 gene in humans also cause a severe but slowly progressing brain disease.