Cited by 180Mitochondrial Function and PathologyHereditary Neurological DisordersParkinson's Disease Mechanisms and Treatments

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The role of mitochondria in inherited neurodegenerative diseases

Kwong, Jennifer Q., Beal, M. Flint, Manfredi, Giovanni·2006·Journal of Neurochemistry

DOI 10.1111/j.1471-4159.2006.03990.x

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Abstract

In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant optic atrophy, Charcot‐Marie‐Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated. However, the common pathogenic mechanisms of neuronal death are still largely unknown. Recently, mitochondrial dysfunction has emerged as a potential ‘lowest common denominator’ linking these disorders. In this review, we discuss the body of evidence supporting the role of mitochondria in the pathogenesis of hereditary neurodegenerative diseases. We summarize the principal features of genetic diseases caused by abnormalities of mitochondrial proteins encoded by the mitochondrial or the nuclear genomes. We then address genetic diseases where mutant proteins are localized in multiple cell compartments, including mitochondria and where mitochondrial defects are likely to be directly caused by the mutant proteins. Finally, we describe examples of neurodegenerative disorders where mitochondrial dysfunction may be ‘secondary’ and probably concomitant with degenerative events in other cell organelles, but may still play an important role in the neuronal decay. Understanding the contribution of mitochondrial dysfunction to neurodegeneration and its pathophysiological basis will significantly impact our ability to develop more effective therapies for neurodegenerative diseases.

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Authors: Kwong, J. Q., Beal, M. F., & Manfredi, G.
Affiliations: Cornell University (US)
ORCID: Kwong, Jennifer Q.
Manfredi, Giovanni
Venue: Journal of Neurochemistry
Publisher: Wiley
Published: 2006-06
Volume: 97
Issue: 6
Pages: 1659-1675
ISSN: 0022-3042 (ISSN-L)
1471-4159
DOI: 10.1111/j.1471-4159.2006.03990.x
OpenAlex: W2007815419
Cited by: 180
References: 202
Citations by year: 2026: 4 · 2025: 2 · 2024: 5 · 2023: 6 · 2022: 3 · 2021: 5 · 2019: 3 · 2018: 5 · 2017: 7 · 2016: 4 · 2015: 12 · 2014: 9 · 2013: 15 · 2012: 9
FWCI: 1.64
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 18 d)
Locations: Journal of Neurochemistry (publishedVersion)
PubMed (publishedVersion)
Funders: National Institute of Neurological Disorders and Stroke (P01NS011766)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
Keywords: mitochondria, mitochondrial dysfunction, inherited neurodegenerative disorders, neuronal cell death, Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich's ataxia, hereditary spastic paraplegia, autosomal dominant optic atrophy, Charcot-Marie-Tooth disease type 2A, mitochondrial DNA mutations, nuclear-encoded mitochondrial proteins, pathogenesis
MeSH terms: Animals, Humans, Mitochondria, Heredodegenerative Disorders, Nervous System

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The role of mitochondria in inherited neurodegenerative diseases

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