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PMID: 19118185 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Loss-of-function analysis suggests that Omi/HtrA2 is not an essential component of the PINK1/PARKIN pathway in vivo.

Yun J, Cao JH, Dodson MW, Clark IE, Kapahi P, Chowdhury RB, Guo M

Abstract

Recently, a mutation in the mitochondrial protease Omi/HtrA2, G399S, was found in sporadic Parkinson's disease (PD) patients, leading to the designation of Omi/HtrA2 as PD locus 13 (PARK13). G399S reportedly results in reduced Omi protease activity. In vitro studies have suggested that Omi/HtrA2 acts downstream of PINK1, mutations in which mediate recessive forms of PD. We, as well as other, have previously shown that the Drosophila homologs of the familial PD genes, PINK1 (PARK6) and PARKIN (PARK2), function in a common genetic pathway to regulate mitochondrial integrity and dynamics. Whether Omi/HtrA2 regulates mitochondrial integrity and whether it acts downstream of PINK1 in vivo remain to be explored. Here, we show that Omi/HtrA2 null mutants in Drosophila, in contrast to pink1 or parkin null mutants, do not show mitochondrial morphological defects. Extensive genetic interaction studies do not provide support for models in which Omi/HtrA2 functions in the same genetic pathway as pink1, or carries out partially redundant functions with pink1, at least with respect to regulation of mitochondrial integrity and dynamics. Furthermore, Omi/HtrA2 G399S retains significant, if not full, function of Omi/HtrA2, compared with expression of protease-compromised versions of the protein. In light of recent findings showing that G399S can be found at comparable frequencies in PD patients and healthy controls, we do not favor a hypothesis in which Omi/HtrA2 plays an essential role in PD pathogenesis, at least with respect to regulation of mitochondrial integrity in the pink1/parkin pathway.

MeSH Terms
Age Factors Animals Animals, Genetically Modified Animals, Newborn Drosophila Drosophila Proteins/genetics,metabolism Female Fertility/genetics Green Fluorescent Proteins/genetics High-Temperature Requirement A Serine Peptidase 2 Male Microscopy, Electron, Transmission/methods Mitochondria/genetics,metabolism,ultrastructure Mutation/genetics Phenotype RNA, Messenger/metabolism Serine Endopeptidases/genetics,metabolism Signal Transduction/genetics Stress, Psychological/genetics,metabolism Tyrosine 3-Monooxygenase/genetics,metabolism Ubiquitin-Protein Ligases
Chemicals
Drosophila Proteins RNA, Messenger p protein, Drosophila Green Fluorescent Proteins Tyrosine 3-Monooxygenase Ubiquitin-Protein Ligases Serine Endopeptidases High-Temperature Requirement A Serine Peptidase 2 HtrA2 protein, Drosophila park protein, Drosophila
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Yun Jina
Department of Neurology, The David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90095, USA.
Cao Joseph H
Dodson Mark W
Clark Ira E
Kapahi Pankaj
Chowdhury Ruhena B
Guo Ming
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Article Info
Journal
The Journal of neuroscience : the official journal of the Society for Neuroscience
Abbr.
J Neurosci
ISSN
1529-2401
Published
2008-12-31
Pages
14500-10
Language
English
Region
United States
NLM ID
8102140
PMCID
PMC2718055
Subset
IM
Grants
NINDS NIH HHS · R01 NS086057 · United States
NIA NIH HHS · K02 AG031915-01 · United States
NIA NIH HHS · R01 AG033410 · United States
NINDS NIH HHS · K08 NS042580-01 · United States
NIA NIH HHS · R01 AG033410-01 · United States
NINDS NIH HHS · K08 NS042580 · United States
NIA NIH HHS · K02 AG031915 · United States
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