Genetic mutation linked to muscle weakness in Dutch Shepherd dogs

Takeaway

  • Transport activity of mitochondrial aspartate-glutamate carrier 1 (AGC1) is defective in Dutch Shepherd dogs with early onset progressive muscle weakness and is associated with proinflammatory milieu and strong oxidative stress.

Why this matters

    Identifying metabolic disturbances associated with mutation variants may increase current knowledge of inflammatory myopathy etiologies and underlying mitochondrial disorders.