Neurodegenerative Diseases Associated with Mitochondrial DNA Mutations
Abstract
Mitochondrial dysfunction underlies several human chronic pathologies, including cardiovascular disorders, cancers and neurodegenerative diseases. Impaired mitochondrial function associated with oxidative stress can be a result of both nuclear and mitochondrial DNA (mtDNA) mutations. Neurological disorders associated with mtDNA mutations include mitochondrial encephalomyopathy, chronic progressive external ophthalmoplegia, neurogenic weakness, and Leigh syndrome. Moreover, mtDNA mutations were shown to play a role in the development of Parkinson and Alzheimer’s diseases. In this review, current knowledge on the distribution and possible roles of mtDNA mutations in the onset and development of various neurodegenerative diseases, with special focus on Parkinson’s and Alzheimer’s diseases has been discussed.
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Dysregulated mitochondrial biogenesis, altered mitochondrial dynamics, and compromised genome integrity contribute to breakdown of mitochondrial health and function and are linked to Alzheimer's disease.
“Dysregulated mitochondrial biogenesis, alterations in mitochondrial dynamics (fusion and fission), and compromised genome integrity mechanisms collectively contribute to the breakdown of mitochondrial health and function. These factors are intricately linked to various disorders, notably AD (Baloyannis et al, 2004; Zhunina et al, 2020).”
From The mitochondrial long non-coding RNA lncMtloop regulates mitochondrial transcription and suppresses Alzheimer’s disease (2024) · cites this paper as Zhunina et al, 2020
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Background
- Authors
- Zhunina, O. A., Yabbarov, N. G., Grechko, A. V., Yet, S.-F., Sobenin, I. A., & Orekhov, A. N.
- Affiliations
- Russian Research Center for Molecular Diagnostics and Therapy (RU)
- Federal Research and Clinical Center of Intensive Care Medicine and Rehabilitology, 14-3 Solyanka Street, 109240, Moscow, Russian Federation
- National Health Research Institutes (TW)
- National Medical Research Center of Cardiology (RU)
- Research Institute of Human Morphology (RU)
- Corresponding author
- Orekhov, Alexander N.
- Venue
- Current Pharmaceutical Design
- Publisher
- Bentham Science Publishers Ltd.
- Published
- 2020-02-25
- Volume
- 26
- Issue
- 1
- Pages
- 103-109
- ISSN
- 1381-6128 (ISSN-L)
- OpenAlex
- W2990805820
- Cited by
- 19
- References
- 0
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 2 · 2023: 3 · 2022: 1 · 2021: 5 · 2020: 3
- FWCI
- 0.20
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Current Pharmaceutical Design (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Russian Science Foundation (19-15-00010)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- mitochondrial DNA mutations, neurodegenerative diseases, Parkinson's disease, Alzheimer's disease, mitochondrial dysfunction, oxidative stress, mitochondrial encephalomyopathy, chronic progressive external ophthalmoplegia, Leigh syndrome
- MeSH terms
- DNA, Mitochondrial, Humans, Mitochondria, Mutation, Oxidative Stress, Neurodegenerative Diseases, Mitochondrial Diseases
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