The dynactin p150 subunit: Cell biology studies of sequence changes found in ALS/MND and Parkinsonian Syndromes

Marianne Stockmann, Marie Meyer-Ohlendorf, Kevin Achberger, Stefan Putz, Maria Demestre, Haishan Yin, Corinna Hendrich, Leonhard Linta, Jutta Heinrich, Cornelia Brunner, Christian Proepper, Georges F. Kuh, Bernd Baumann, Torben Langer, Birgit Schwalenstöcker, Kerstin E. Braunstein, Christine Von Arnim, Stephan Schneuwly, Thomas Meyer, Philip C. WongTobias M. Boeckers, Albert C. Ludolph, Stefan Liebau

Research output: Contribution to journalArticlepeer-review

Abstract

The dynactin p150glued subunit, encoded by the gene DCTN1 is part of the dynein-dynactin motor protein complex responsible for retrograde axonal transport. This subunit is a candidate modifier for neurodegenerative diseases, in particular motoneuron and extrapyramidal diseases. Based on an extensive screening effort of all 32 exons in more than 2,500 ALS/MND patients, patients suffering from Parkinsonian Syndromes and controls, we investigated 24 sequence variants of p150 in cell-based studies. We used both non-neuronal cell lines and primary rodent spinal motoneurons and report on cell biological abnormalities in five of these sequence alterations and also briefly report on the clinical features. Our results suggest the presence of biological changes caused by some p150 mutants pointing to a potential pathogenetic significance as modifier of the phenotype of the human disease.

Original languageEnglish (US)
Pages (from-to)785-798
Number of pages14
JournalJournal of Neural Transmission
Volume120
Issue number5
DOIs
StatePublished - May 1 2013

Keywords

  • ALS
  • Dynactin
  • MND
  • Parkinsonism
  • p150 subunit

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health
  • Biological Psychiatry

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