Mitochondrial diseases: the contribution of organelle stress responses to pathology
Abstract
Mitochondrial diseases affect one in 2,000 individuals; they can present at any age and they can manifest in any organ. How defects in mitochondria can cause such a diverse range of human diseases remains poorly understood. Insight into this diversity is emerging from recent research that investigated defects in mitochondrial protein synthesis and mitochondrial DNA maintenance, which showed that many cell-specific stress responses are induced in response to mitochondrial dysfunction. Studying the molecular regulation of these stress responses might increase our understanding of the pathogenesis and variability of human mitochondrial diseases.
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Results from the analyses are consistent with previous studies and supported by multiple other omics studies.
“and the results from our analyses are consistent with those from previous studies (Beheshti et al., 2019; Suomalainen and Battersby, 2018) and are supported by multiple other omics studies (Bezdan et al., 2020; Gertz et al., 2020).”
From Comprehensive Multi-omics Analysis Reveals Mitochondrial Stress as a Central Biological Hub for Spaceflight Impact (2020) · cites this paper as Suomalainen and Battersby, 2018
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- Authors
- Suomalainen, A., & Battersby, B. J.
- Affiliations
- University of Helsinki (FI)
- Corresponding author
- Suomalainen, Anu
- Battersby, Brendan J.
- Venue
- Nature Reviews Molecular Cell Biology
- Published
- 2017-08-09
- Volume
- 19
- Issue
- 2
- Pages
- 77-92
- ISSN
- 1471-0072 (ISSN-L)
- 1471-0080
- OpenAlex
- W2742984768
- Cited by
- 505
- References
- 21
- Citations by year
- 2026: 37 · 2025: 53 · 2024: 70 · 2023: 59 · 2022: 72 · 2021: 66 · 2020: 56 · 2019: 40 · 2018: 51 · 2017: 1
- FWCI
- 3.78
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nature Reviews Molecular Cell Biology (publishedVersion)
- PubMed (publishedVersion)
- 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 › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- mitochondrial disease, mitochondrial stress response, mitochondrial dysfunction, mitochondrial DNA maintenance, mitochondrial translation, phenotypic variability, pathogenesis
- MeSH terms
- Animals, DNA, Mitochondrial, Humans, Mitochondria, Organelles, Oxidative Stress, Mitochondrial Diseases
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