Aberrant redox homoeostasis and mitochondrial dysfunction in Rett syndrome
Abstract
RTT (Rett syndrome) is a severe progressive neurodevelopmental disorder with a monogenetic cause, but complex and multifaceted clinical appearance. Compelling evidence suggests that mitochondrial alterations and aberrant redox homoeostasis result in oxidative challenge. Yet, compared with other severe neuropathologies, RTT is not associated with marked neurodegeneration, but rather a chemical imbalance and miscommunication of neuronal elements. Different pharmacotherapies mediate partial improvement of conditions in RTT, and also antioxidants or compounds improving mitochondrial function may be of potential merit. In the present paper, we summarize findings from patients and transgenic mice that point towards the nature of RTT as a mitochondrial disease. Also, open questions are addressed that require clarification to fully understand and successfully target the associated cellular redox imbalance.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
RTT animal models have defects in the mitochondrial respiratory chain.
“RTT patients have increased oxidative burden and abnormal mitochondrial structure, while RTT animal models have defects in the mitochondrial respiratory chain [23,26,200–202] and oxidative changes in the brain [203].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [202]
RTT patients have increased oxidative burden and abnormal mitochondrial structure.
“RTT patients have increased oxidative burden and abnormal mitochondrial structure, while RTT animal models have defects in the mitochondrial respiratory chain [23,26,200–202] and oxidative changes in the brain [203].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [202]
Cites
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science · doi:10.1126/science.1153252 · Cited by 1,823 · see citing works
Enhanced Hypoxia Susceptibility in Hippocampal Slices From a Mouse Model of Rett Syndrome
Fischer, M., Reuter, J., Gerich, F. J., Hildebrandt, B., Hägele, S., Katschinski, D., & Müller, M. (2009) · Journal of Neurophysiology · doi:10.1152/jn.91124.2008 · Cited by 65 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Rett syndrome: a neurological disorder with metabolic components
Kyle, S. M., Vashi, N., & Justice, M. J. (2018) · Open Biology · doi:10.1098/rsob.170216 · Cited by 213 · see citing works
MeCP2 co-ordinates liver lipid metabolism with the NCoR1/HDAC3 corepressor complex
Kyle, S. M., Saha, P. K., Brown, H. M., Chan, L. C., & Justice, M. J. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw156 · Cited by 84 · see citing works
Janc, O. A., Hüser, M. A., Dietrich, K., Kempkes, B., Menzfeld, C., Hülsmann, S., & Müller, M. (2016) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2016.00266 · Cited by 35 · see citing works
Self-citation
- Authors
- Müller, M., & Can, K.
- Affiliations
- Universitätsmedizin Göttingen (DE)
- Corresponding author
- Can, Karolina
- Venue
- Biochemical Society Transactions
- Publisher
- Portland Press Ltd.
- Published
- 2014-08-01
- Volume
- 42
- Issue
- 4
- Pages
- 959-964
- ISSN
- 0300-5127 (ISSN-L)
- 1470-8752
- OpenAlex
- W1990147842
- Cited by
- 50
- References
- 2
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 5 · 2023: 4 · 2022: 2 · 2021: 5 · 2020: 4 · 2019: 5 · 2018: 1 · 2017: 11 · 2016: 4 · 2015: 5
- FWCI
- 0.88
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biochemical Society Transactions (publishedVersion)
- PubMed (publishedVersion)
- GRO (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Redox biology and oxidative stress
- Keywords
- Rett syndrome, redox homeostasis, mitochondrial dysfunction, oxidative stress, mitochondrial disease, neurodevelopmental disorders, antioxidants, pharmacotherapy, transgenic mouse model, neural communication
- MeSH terms
- Animals, Humans, Mitochondria, Oxidation-Reduction, Rett Syndrome, Reactive Oxygen Species, Mitochondrial Diseases
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
