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The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease
15:09

The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease

Published on: October 3, 2012

Mortalin mutations are not a frequent cause of early-onset Parkinson disease

Karen Freimann1, Katja Zschiedrich, Norbert Brüggemann

  • 1Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

Neurobiology of Aging
|July 9, 2013
PubMed

Insights

Genetic variants in mortalin (HSPA9, GRP75) are not a primary cause of early-onset Parkinson disease (EOPD). Although mutations were found in patients and controls, they did not impair mitochondrial function.

Area of Science:

  • Neuroscience
  • Genetics
  • Mitochondrial Biology

Background:

  • Mitochondrial dysfunction is linked to Parkinson disease (PD) pathogenesis.
  • The mitochondrial chaperone mortalin (HSPA9, GRP75) is implicated in PD.

Purpose of the Study:

  • To investigate the role of mortalin variants in early-onset Parkinson disease (EOPD).
  • To determine if identified mortalin mutations affect mitochondrial function.

Main Methods:

  • Screening of 139 EOPD patients and 279 controls for mortalin mutations.
  • Analysis of missense changes (p.L358P and p.T333K) for predicted pathogenicity.
  • Assessment of subcellular localization, mitochondrial morphology, and respiratory function in wild-type and mutant mortalin.

Main Results:

  • One missense mortalin variant (p.L358P) was found in EOPD patients, absent in controls.
  • Another missense variant (p.T333K) was identified in control individuals.
  • No significant differences in mitochondrial localization, morphology, or respiratory function were observed between wild-type and mutant mortalin.

Conclusions:

  • Mortalin variants are unlikely to be a major cause of EOPD.
  • Identified mortalin variants occur in both PD patients and healthy controls.
  • These variants do not appear to cause functional impairment of mitochondria.
Keywords:
Early-onset Parkinson diseaseGRP75HSPA9MitochondriaMortalin

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