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The developmentally regulated expression of Menkes protein ATP7A suggests a role in axon extension and synaptogenesis

Rajaâ El Meskini1, Laura B Cline, Betty A Eipper

  • 1Department of Neuroscience, University of Connecticut Health Center, Farmington, Conn., USA.

Developmental Neuroscience
|September 3, 2005
PubMed

Insights

Menkes disease involves ATP7A mutations. This study reveals ATP7A

Area of Science:

  • Neuroscience
  • Cell Biology
  • Genetics

Background:

  • Menkes disease (MD) is a neurodegenerative disorder linked to mutations in the copper transporter ATP7A.
  • Existing knowledge suggests copper is vital for mature neurons, but this doesn't fully explain MD's developmental neurodegeneration.
  • The precise role of ATP7A during neuronal development remains unclear.

Purpose of the Study:

  • To investigate the developmental roles of the copper transporter ATP7A in neurons.
  • To characterize the expression pattern of ATP7A during neurodevelopment using the olfactory system as a model.

Main Methods:

  • Characterized the expression pattern of the copper transporter ATP7A in the olfactory system.
  • Examined ATP7A protein localization during neuronal development and after injury-stimulated neurogenesis.
  • Assessed axonal localization of copper-transport-deficient ATP7A mutants.

Main Results:

  • ATP7A expression in neurons is developmentally regulated, not constitutive.
  • ATP7A protein shifts from neuronal cell bodies to extending axons during development, preceding synaptogenesis.
  • Similar temporal and spatial expression patterns were observed following injury-induced neurogenesis, and even copper-transport-deficient ATP7A localized to axons.

Conclusions:

  • ATP7A plays a crucial role in axon extension during neuronal development.
  • This role in axon development may contribute to the severe neurodegeneration observed in Menkes disease.
  • Further research into ATP7A's function in axonogenesis is warranted.

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