Motor neuron mitochondrial dysfunction in spinal muscular atrophy
Open accessAbstract
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, predominantly affects high metabolic tissues including motor neurons, skeletal muscles and the heart. Although the genetic cause of SMA has been identified, mechanisms underlying tissue-specific vulnerability are not well understood. To study these mechanisms, we carried out a deep sequencing analysis of the transcriptome of spinal motor neurons in an SMA mouse model, in which we unexpectedly found changes in many genes associated with mitochondrial bioenergetics. Importantly, functional measurement of mitochondrial activities showed decreased basal and maximal mitochondrial respiration in motor neurons from SMA mice. Using a reduction-oxidation sensitive GFP and fluorescence sensors specifically targeted to mitochondria, we found increased oxidative stress level and impaired mitochondrial membrane potential in motor neurons affected by SMA. In addition, mitochondrial mobility was impaired in SMA disease conditions, with decreased retrograde transport but no effect on anterograde transport. We also found significantly increased fragmentation of the mitochondrial network in primary motor neurons from SMA mice, with no change in mitochondria density. Electron microscopy study of SMA mouse spinal cord revealed mitochondria fragmentation, edema and concentric lamellar inclusions in motor neurons affected by the disease. Intriguingly, these functional and structural deficiencies in the SMA mouse model occur during the presymptomatic stage of disease, suggesting a role in initiating SMA. Altogether, our findings reveal a critical role for mitochondrial defects in SMA pathogenesis and suggest a novel target for improving tissue health in the disease.
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“Analysis of peripheral blood monocyte transcriptomes from HD patients has revealed a proinflammatory phenotype, perhaps reflecting a priming effect of mutant HTT (165).”
From Microglia Function in the Central Nervous System During Health and Neurodegeneration (2017) · cites this paper as [165]
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- Authors
- Miller, N., Shi, H., Zelikovich, A. S., & Ma, Y.-C.
- Affiliations
- Northwestern University (US)
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2016-08-03
- Volume
- 25
- Issue
- 16
- Pages
- 3395-3406
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC5179954
- OpenAlex
- W2504137115
- Cited by
- 119
- References
- 65
- Citations by year
- 2026: 6 · 2025: 6 · 2024: 11 · 2023: 13 · 2022: 12 · 2021: 18 · 2020: 19 · 2019: 5 · 2018: 17 · 2017: 11 · 2016: 1
- FWCI
- 8.22
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- Hartwell Foundation
- Cure SMA
- Feinberg Foundation
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (R01NS094564)
- Topics
- Health Sciences › Medicine › Genetics › Neurogenetic and Muscular Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- spinal muscular atrophy, motor neurons, mitochondrial dysfunction, mitochondrial respiration, oxidative stress, mitochondrial membrane potential, mitochondrial transport, mitochondrial fragmentation, presymptomatic disease, SMA mouse model, mitochondrial bioenergetics
- MeSH terms
- Animals, Disease Models, Animal, Humans, Microscopy, Electron, Mitochondria, Motor Neurons, Muscular Atrophy, Spinal, Myocardium, Spinal Cord, Oxidative Stress, Muscle, Skeletal, Mice, Membrane Potential, Mitochondrial, High-Throughput Nucleotide Sequencing, Transcriptome
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