Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript

Alemi, Mansour; Prigione, Alessandro; Wong, Alice; Schoenfeld, Robert; DiMauro, Salvatore; Hirano, Michio; Taroni, Franco; Cortopassi, Gino

doi:10.1016/j.freeradbiomed.2006.09.014

Cited by 51Mitochondrial Function and PathologyAutophagy in Disease and TherapyUbiquitin and proteasome pathways

Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript

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Alemi, Mansour, Prigione, Alessandro, Wong, Alice, Schoenfeld, Robert, DiMauro, Salvatore, Hirano, Michio, Taroni, Franco, Cortopassi, Gino·2007·Free Radical Biology and Medicine

DOI 10.1016/j.freeradbiomed.2006.09.014PMC PMC1927835

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Abstract

Deletions within the mitochondrial DNA (mtDNA) cause Kearns Sayre syndrome (KSS) and chronic progressive external opthalmoplegia (CPEO). The clinical signs of KSS include muscle weakness, heart block, pigmentary retinopathy, ataxia, deafness, short stature, and dementia. The identical deletions occur and rise exponentially as humans age, particularly in substantia nigra. Deletions at >30% concentration cause deficits in basic bioenergetic parameters, including membrane potential and ATP synthesis, but it is poorly understood how these alterations cause the pathologies observed in patients. To better understand the consequences of mtDNA deletions, we microarrayed six cell types containing mtDNA deletions from KSS and CPEO patients. There was a prominent inhibition of transcripts encoding ubiquitin-mediated proteasome activity, and a prominent induction of transcripts involved in the AMP kinase pathway, macroautophagy, and amino acid degradation. In mutant cells, we confirmed a decrease in proteasome biochemical activity, significantly lower concentration of several amino acids, and induction of an autophagic transcript. An interpretation consistent with the data is that mtDNA deletions increase protein damage, inhibit the ubiquitin-proteasome system, decrease amino acid salvage, and activate autophagy. This provides a novel pathophysiological mechanism for these diseases, and suggests potential therapeutic strategies.

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mtDNA deletions exert a negative effect on cell proliferation and cell cycle.
“Furthermore, the mtDNA deletions were shown to exert a negative effect on cell proliferation and cell cycle.”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [215]
In muscle and six cybrid cell lines containing 4977 bp and 7.5 kb mtDNA deletions, expression of metabolic pathway genes and nuclear OXPHOS genes is reduced relative to controls.
“The transcriptomes of muscle and six cybrid cell lines containing 4977 bp and 7.5 kb mtDNA deletions revealed a reduction in the expression of metabolic pathway genes and nuclear OXPHOS genes relative to controls.”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [215]

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Authors: Alemi, M., Prigione, A., Wong, A., Schoenfeld, R., DiMauro, S., Hirano, M., Taroni, F., & Cortopassi, G.
Affiliations: University of California, Davis (US)
Columbia University Irving Medical Center (US)
Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
Corresponding author: Cortopassi, Gino
ORCID: Prigione, Alessandro
Hirano, Michio
Taroni, Franco
Venue: Free Radical Biology and Medicine
Publisher: Elsevier BV
Published: 2007-01
Volume: 42
Issue: 1
Pages: 32-43
ISSN: 0891-5849 (ISSN-L)
DOI: 10.1016/j.freeradbiomed.2006.09.014
PMC: PMC1927835
OpenAlex: W2070041362
Cited by: 50
References: 95
Citations by year: 2026: 1 · 2025: 1 · 2024: 1 · 2023: 3 · 2022: 2 · 2021: 2 · 2020: 2 · 2019: 1 · 2017: 1 · 2016: 3 · 2015: 2 · 2014: 1 · 2013: 2 · 2012: 5
FWCI: 1.77
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Free Radical Biology and Medicine (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health (5p30es005707-15)
U.S. Public Health Service (V440C21)
National Institute on Aging (AG16719, R01-AG11967, R01AG016719, R03AG023311, R01AG011967)
National Eye Institute (R01EY012245, EY 12245)
National Cancer Institute (R01CA042742)
National Institute of Neurological Disorders and Stroke (R01NS077777)
National Institute of Environmental Health Sciences (P30-ES0-05707)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Health Sciences › Medicine › Epidemiology › Autophagy in Disease and Therapy
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ubiquitin and proteasome pathways
Keywords: mitochondrial DNA deletions, Kearns-Sayre syndrome, proteasome inhibition, ubiquitin-proteasome system, autophagy, amino acid catabolism, protein damage, substantia nigra
MeSH terms: Autophagy, Cells, Cultured, DNA, Mitochondrial, Humans, Kearns-Sayre Syndrome, RNA, Messenger, Transcription, Genetic, Biomarkers, Ophthalmoplegia, Chronic Progressive External, Sequence Deletion, Reverse Transcriptase Polymerase Chain Reaction, Oligonucleotide Array Sequence Analysis, Gene Expression Profiling, Ubiquitin, Proteasome Endopeptidase Complex, Proteasome Inhibitors

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Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript

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