Genetic features of mitochondrial respiratory chain disorders

Rötig, Agnès; Munnich, Arnold

doi:10.1097/01.asn.0000095481.24091.c9

Cited by 82Nerve injury and regenerationMitochondrial Function and PathologyHereditary Neurological Disorders

Genetic features of mitochondrial respiratory chain disorders

Rötig, Agnès, Munnich, Arnold·2003·Journal of the American Society of Nephrology

DOI 10.1097/01.asn.0000095481.24091.c9

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Abstract

After nerve injury, Schwann cells convert to a phenotype specialized to promote repair. But during the slow process of axonal regrowth, these repair Schwann cells gradually lose their regeneration-supportive features and eventually die. Although this is a key reason for the frequent regeneration failures in humans, the transcriptional mechanisms that control long-term survival and phenotype of repair cells have not been studied, and the molecular signaling underlying their decline is obscure. We show, in mice, that Schwann cell STAT3 has a dual role. It supports the long-term survival of repair Schwann cells and is required for the maintenance of repair Schwann cell properties. In contrast, STAT3 is less important for the initial generation of repair Schwann cells after injury. In repair Schwann cells, we find that Schwann cell STAT3 activation by Tyr705 phosphorylation is sustained during long-term denervation. STAT3 is required for maintaining autocrine Schwann cell survival signaling, and inactivation of Schwann cell STAT3 results in a striking loss of repair cells from chronically denervated distal stumps. STAT3 inactivation also results in abnormal morphology of repair cells and regeneration tracks, and failure to sustain expression of repair cell markers, including Shh, GDNF, and BDNF. Because Schwann cell development proceeds normally without STAT3, the function of this factor appears restricted to Schwann cells after injury. This identification of transcriptional mechanisms that support long-term survival and differentiation of repair cells will help identify, and eventually correct, the failures that lead to the deterioration of this important cell population. SIGNIFICANCE STATEMENT Although injured peripheral nerves contain repair Schwann cells that provide signals and spatial clues for promoting regeneration, the clinical outcome after nerve damage is frequently poor. A key reason for this is that, during the slow growth of axons through the proximal parts of injured nerves repair, Schwann cells gradually lose regeneration-supporting features and eventually die. Identification of signals that sustain repair cells is therefore an important goal. We have found that in mice the transcription factor STAT3 protects these cells from death and contributes to maintaining the molecular and morphological repair phenotype that promotes axonal regeneration. Defining the molecular mechanisms that maintain repair Schwann cells is an essential step toward developing therapeutic strategies that improve nerve regeneration and functional recovery.

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The mitochondrial oxidative phosphorylation system consists of five multi-heteromeric complexes embedded in the inner mitochondrial membrane and composed of subunits encoded by both nuclear and mitochondrial DNA (except complex II, which is only encoded by nuclear DNA).
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Authors: Rötig, A., & Munnich, A.
Affiliations: Hôpital Necker-Enfants Malades (FR)
ORCID: Rötig, Agnès
Venue: Journal of the American Society of Nephrology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2003-12
Volume: 14
Issue: 12
Pages: 2995-3007
ISSN: 1046-6673 (ISSN-L)
DOI: 10.1097/01.asn.0000095481.24091.c9
OpenAlex: W2085804445
Cited by: 82
References: 81
Citations by year: 2026: 1 · 2025: 2 · 2024: 4 · 2023: 3 · 2022: 4 · 2021: 3 · 2020: 4 · 2019: 2 · 2018: 1 · 2017: 6 · 2016: 4 · 2015: 2 · 2014: 2 · 2013: 8 · 2012: 4
FWCI: 1.64
Type: journal article
Language: en
Open access: closed
Locations: Journal of the American Society of Nephrology (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Nerve injury and regeneration
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords: mitochondrial respiratory chain disorders, Schwann cells, STAT3, nerve injury, axon regeneration, denervation, Schwann cell survival, autocrine signaling, Sonic hedgehog, glial cell line-derived neurotrophic factor, brain-derived neurotrophic factor, peripheral nerve repair, transcriptional regulation
MeSH terms: DNA, Mitochondrial, Humans, Mitochondria, Mutation, Mitochondrial Diseases

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Genetic features of mitochondrial respiratory chain disorders

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