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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Pirolo, Domenico Grattagliano, Ignazio Villani, Gaetano Pacelli, Consiglia Di Tullio, Giuseppe D'orazio, Andria De Rasmo, Domenico Schubert, Susanna Nico, Beatrice Comi, Giacomo Pietro Gaballo, Antonio Signorile, Anna Ferranini, Ermanno Ronchi, Dario Seibel, Peter Cocco, Tiziana |
| Description | Author Affiliation: Pacelli C ( Department of Medical Biochemistry, Biology & Physics, University of Bari 'A. Moro', 70124 Bari, Italy.) |
| Abstract | Mutations in the parkin gene are expected to play an essential role in autosomal recessive Parkinson's disease. Recent studies have established an impact of parkin mutations on mitochondrial function and autophagy. In primary skin fibroblasts from two patients affected by an early onset Parkinson's disease, we identified a hitherto unreported compound heterozygous mutation del exon2-3/del exon3 in the parkin gene, leading to the complete loss of the full-length protein. In both patients, but not in their heterozygous parental control, we observed severe ultrastructural abnormalities, mainly in mitochondria. This was associated with impaired energy metabolism, deregulated reactive oxygen species (ROS) production, resulting in lipid oxidation, and peroxisomal alteration. In view of the involvement of parkin in the mitochondrial quality control system, we have investigated upstream events in the organelles' biogenesis. The expression of the peroxisome proliferator-activated receptor gamma-coactivator 1-alpha (PGC-1α), a strong stimulator of mitochondrial biogenesis, was remarkably upregulated in both patients. However, the function of PGC-1α was blocked, as revealed by the lack of its downstream target gene induction. In conclusion, our data confirm the role of parkin in mitochondrial homeostasis and suggest a potential involvement of the PGC-1α pathway in the pathogenesis of Parkinson's disease. This article is part of a Special Issue entitled: Translating nuclear receptors from health to disease. |
| ISSN | 00063002 |
| Journal | Biochimica et Biophysica Acta (BBA) - Reviews on Cancer |
| Issue Number | 8 |
| Volume Number | 1812 |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2011-08-01 |
| Publisher Place | Netherlands |
| Access Restriction | Open |
| Subject Keyword | Heat-Shock Proteins Physiology Mitochondria Parkinson Disease Physiopathology Transcription Factors Ubiquitin-Protein Ligases DNA Primers Energy Metabolism Fibroblasts Ultrastructure Mutation Oxidative Stress Genetics Reverse Transcriptase Polymerase Chain Reaction Research Support, Non-U.S. Gov't Biochemistry |
| Content Type | Text |
| Resource Type | Article |
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