The Park6 from of idiopathic Parkinson`s disease: Characterization of patients, their cells, and functional role of Pink1 kinase

• Applicant: Professor Dr. Georg Auburger
• Subject Area: Molecular Biology and Physiology of Neurons and Glial Cells
• Term: from 2004 to 2009
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 5446392

• Final Report Year: 2010

Final Report Abstract

A distinctive PARK6 syndrome was defined clinically, with SPECT imaging, and with polysomnography. Biomarkers of mitochondrial dysfunction were altered in peripheral skin fibroblasts of patients and in the brain of the mouse model. Three genes are under investigation as members of the PINK1 pathway, with Parkin acting downstream and being able to rescue pathology.

Publications

• Dopaminergic function in a family with autosomal recessive Parkinson's disease (Park6) (2005). J Neurol Transmission, 112:1345-53
  Kessler KR, Hamscho N, Menzel C, Morales B, Barrero F, Vives F, Gispert S, Auburger G
  
• (2007) Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. Neurobiol Dis, 25:401-11
  Hoepken HH, Gispert S, Morales B, Wingerter O, Del Turco D, Mülsch A, Nussbaum RL, Muller K, Drose S, Brandt U, Deller T, Wirth B, Kudin AP, Kunz WS, Auburger G
  
• Loss-of-function of human PINKI results in mitochondrial pathology and can be rescued by parkin. J Neurosci. 2007 Nov 7;27(45):12413-8
  Exner N, Treske B, Paquet D, Holmström K, Schiesling C, Gispert S, Carballo-Carbajal I, Berg D, Hoepken HH, Gasser T, Krüger R, Winklhofer KF, Vogel F, Reichert AS, Auburger G, Kahle PJ, Schmid B, Haass C
  
• Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease. Neurosci Lett, 2007 Mar 6;414(2):126-9
  Abahuni N, Gispert S, Bauer P, Riess O, Krüger R, Becker T, Auburger G
  
• (2008) Sleep quality in a family with hereditary parkinsonism (PARK6). Sleep Med, 9(6):684-8
  Tuin I, Voss U, Kessler K, Krakow K, Hilker R, Morales B, Steinmetz H, Auburger G
  
• Parkinson patient fibroblasts show increased alpha-synuclein expression. Exp Neurol. 2008 Aug;212(2):307- 13. Epub 2008 Apr 16
  Hoepken HH, Gispert S, Azizov M, Klinkenberg M, Ricciardi F, Kurz A, Morales-Gordo B, Bonin M, Riess O, Gasser T, Kögel D, Steinmetz H, Auburger G
  
• (2009) Parkinson phenotype in aged PINKI-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration. PLoS ONE, Jun 3;4(6):e5777
  Gispert S, Ricciardi F, Kurz A, Azizov M, Hoepken H-H, Becker D, Voos W, Leuner K, Müller WE, Kudin AP, Kunz WS, Zimmermann A, Roeper J, Wenzel D, Jendrach M, Garcia-Arencibia M, Fernandez-Ruiz J, Huber L, Rohrer H, Barrera M, Reichert A, Rüb U, Chen A, Nussbaum RL, Auburger G