Oxidative metabolism in Rett syndrome. 2. Biochemical and molecular studies
Abstract
In an attempt to identify a possible defect of mitochondrial metabolism in Rett syndrome we studied 9 girls with typical Rett syndrome using a clinical protocol designed to identify disorders of oxidative metabolism. One girl, (RO) had marked lactic acidemia. Biochemical studies on samples from these patients included leukocyte pyruvate carboxylase assay, serum biotinidase and skin fibroblast pyruvate production, pyruvate dehydrogenase, citrate synthetase and 2-oxoglutarate dehydrogenase assay. Muscle electron transport activities were studied on samples from 4 typical Rett patients including RO. Mitochondrial DNA (mtDNA) mutational analysis for the np3243 MELAS mutation, the np8993 NARP mutation, the np8344 MERFF mutation and the 4977 kb common deletion found in Kearns-Sayre syndrome and aged tissues were tested for in 1 of the muscle samples and 2 blood samples from typical Rett patients. Western blotting of electron transport complex III was performed on mitochondrial samples obtained from autopsy brain tissue in 2 Rett patients and compared to pediatric control brain samples. No abnormalities were found in blood biotinidase or pyruvate carboxylase. Western blotting of 2 Rett brain mitochondrial samples for complex III appear normal. Pyruvate consumption in medium from 8 Rett fibroblast lines grown with and without dichloroacetate (DCA) showed a normal fall in pyruvate suggesting normal pyruvate dehydrogenase activity in these cells, however the fibroblasts from patient RO…
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Elevated levels of lactate and pyruvate in blood and cerebrospinal fluid have been observed in RTT patients.
“Consistently, altered electron transport chain complex function [27], increased oxidative stress [28–30], and elevated levels of lactate and pyruvate in blood and cerebrospinal fluid [20,27] have been observed in RTT patients (reviewed in [31]).”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [27]
Altered electron transport chain complex function has been observed in RTT patients.
“Consistently, altered electron transport chain complex function [27], increased oxidative stress [28–30], and elevated levels of lactate and pyruvate in blood and cerebrospinal fluid [20,27] have been observed in RTT patients (reviewed in [31]).”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [27]
Both RTT patients and Mecp2 mutant mice present with metabolic syndrome, oxidative stress, cardiac defects, decreased bone density and urological dysfunction.
“Additionally, both RTT patients and Mecp2 mutant mice present with metabolic syndrome [15,180], oxidative stress [27,29], cardiac defects [211,212], decreased bone density [174,213] and urological dysfunction [214,215].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [27]
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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
- Authors
- Haas, R., Nasirian, F., Hua, X., Nakano, K., & Hennessy, M.
- Affiliations
- University of California San Diego (US)
- ORCID
- Haas, R.
- Venue
- Neuropediatrics
- Publisher
- Georg Thieme Verlag KG
- Published
- 1995-04
- Volume
- 26
- Issue
- 02
- Pages
- 95-99
- ISSN
- 0174-304X (ISSN-L)
- 1439-1899
- OpenAlex
- W1968299448
- Cited by
- 22
- References
- 0
- Citations by year
- 2025: 1 · 2023: 1 · 2021: 2 · 2019: 1 · 2018: 1 · 2017: 1 · 2014: 1 · 2012: 1
- FWCI
- 0.83
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neuropediatrics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5k08ns001024-02)
- National Institute of Neurological Disorders and Stroke (5K08 NS01024)
- National Center for Research Resources (MO1 RR00827, M01RR000827)
- 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 › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- Rett syndrome, oxidative metabolism, mitochondrial metabolism, lactic acidemia, pyruvate dehydrogenase, 2-oxoglutarate dehydrogenase, mitochondrial DNA mutations, cytochrome c oxidase, electron transport chain, mitochondrial complex III, pyruvate carboxylase, biotinidase, fibroblasts, muscle mitochondria
- MeSH terms
- Child, Child, Preschool, DNA, Mitochondrial, Female, Fibroblasts, Humans, Ketoglutarate Dehydrogenase Complex, Pyruvate Dehydrogenase Complex, Severity of Illness Index, Electron Transport Complex III, Blotting, Western, Rett Syndrome, Polymerase Chain Reaction, Mutagenesis
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