Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump

PLoS Genet. 2017 May 4;13(5):e1006763. doi: 10.1371/journal.pgen.1006763. eCollection 2017 May.

Abstract

Mutations in the neuron-specific α3 isoform of the Na+/K+-ATPase are found in patients suffering from Rapid onset Dystonia Parkinsonism and Alternating Hemiplegia of Childhood, two closely related movement disorders. We show that mice harboring a heterozygous hot spot disease mutation, D801Y (α3+/D801Y), suffer abrupt hypothermia-induced dystonia identified by electromyographic recordings. Single-neuron in vivo recordings in awake α3+/D801Y mice revealed irregular firing of Purkinje cells and their synaptic targets, the deep cerebellar nuclei neurons, which was further exacerbated during dystonia and evolved into abnormal high-frequency burst-like firing. Biophysically, we show that the D-to-Y mutation abolished pump-mediated Na+/K+ exchange, but allowed the pumps to bind Na+ and become phosphorylated. These findings implicate aberrant cerebellar activity in α3 isoform-related dystonia and add to the functional understanding of the scarce and severe mutations in the α3 isoform Na+/K+-ATPase.

MeSH terms

  • Action Potentials*
  • Animals
  • Dystonic Disorders / etiology
  • Dystonic Disorders / genetics*
  • Hemiplegia / etiology
  • Hemiplegia / genetics*
  • Heterozygote
  • Hypothermia / complications
  • Mice
  • Mice, Inbred C57BL
  • Muscle Contraction
  • Mutation*
  • Parkinson Disease / etiology
  • Parkinson Disease / genetics*
  • Purkinje Cells / metabolism*
  • Purkinje Cells / physiology
  • Sodium / metabolism
  • Sodium-Potassium-Exchanging ATPase / genetics*
  • Xenopus

Substances

  • Sodium
  • Atp1a3 protein, mouse
  • Sodium-Potassium-Exchanging ATPase

Supplementary concepts

  • Alternating hemiplegia of childhood
  • Parkinsonism-Dystonia, Infantile