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Abnormal mitochondria in the Rett syndrome
Abstract
Two girls with Rett syndrome were investigated including muscle biopsy. The electron microscopy study revealed abnormally swollen and dumb-bell shaped mitochondria. Based on the findings of mitochondrial changes it can be assumed that such changes are due to a mitochondrial mutation steered by an X-borne gene mutation. As a result and because the mitochondrial DNA is maternally inherited, the male zygote may not be implanted or it will proceed to an early embryonal death. The mitochondrial changes with the ensuing effects may be the basic cause of the syndrome.
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Energy-producing mitochondria have abnormal structure in RTT patient cells.
“Additionally, energy-producing mitochondria have abnormal structure in patient cells [23–26].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [23]
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 [23]
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 [23]
Citations
Cites
No references could be resolved yet.
Research works printed but not linked: 12
- Hagberg, 1983, A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls. Rett's syndrome: report of 35 cases, Ann Neurol, 14, 471, 10.1002/ana.410140412 · DOI
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- 1986, The Rett syndrome, Am J Med Genet, 24
- 1987, The proceedings of the 4th international symposium on Rett syndrome, Brain Dev (Tokyo), 9, 445
- Niedermeyer, 1986, Rett syndrome and the electroencephalogram, Am J Med Genet, 24, 195, 10.1002/ajmg.1320250522 · DOI
- Verma, 1986, Electroencepha-lographic findings in Rett syndrome, Electroencephalogr Clin Neurophysiol, 64, 394, 10.1016/0013-4694(86)90072-6 · DOI
- Watson, 1958, Staining of tissue sections for electron microscopy with heavy metals, J Biophys Biochem Cytol, 4, 475, 10.1083/jcb.4.4.475 · DOI
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- Eeg-Olofsson, 1988, Rett syndrome: genetic clues based on mitochondrial changes in muscle, Submitted to Am J Med Genet (letter to the editor)
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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
Park, M. J., Aja, S., Li, Q., Degano, A. L., Penati, J., Zhuo, J., Roe, C. R., & Ronnett, G. V. (2014) · PLoS ONE · doi:10.1371/journal.pone.0109527 · Cited by 62
Metadata
- Authors
- Eeg-Olofsson, O., Al-Zuhair, A. G., Teebi, A. S., & Al-Essa, M. M.
- Venue
- Brain and Development
- Publisher
- Elsevier BV
- Published
- 1988-01
- Volume
- 10
- Issue
- 4
- Pages
- 260-262
- ISSN
- 0387-7604 (ISSN-L)
- OpenAlex
- W1984549890
- Cited by
- 58
- References
- 0
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 2 · 2023: 1 · 2021: 6 · 2020: 1 · 2019: 2 · 2018: 2 · 2017: 4 · 2016: 1 · 2015: 1 · 2014: 3 · 2013: 1
- FWCI
- 2.88
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Brain and Development (publishedVersion)
- PubMed (publishedVersion)
- 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 › Muscle Physiology and Disorders
- Keywords
- Rett syndrome, mitochondrial abnormalities, mitochondrial DNA mutations, X-linked inheritance, maternal inheritance, muscle biopsy, embryonic lethality, pathogenesis
- MeSH terms
- Biopsy, Child, Preschool, Female, Humans, Microscopy, Electron, Mitochondria, Muscle, Muscles, Nervous System Diseases, Syndrome
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