Rett Syndrome: A Mitochondrial Dysfunction?

J Millichap

doi:10.15844/pedneurbriefs-7-6-11

Author:

J Gordon Millichap

Northwestern University Feinberg School of Medicine, US

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Abstract

How to Cite: Millichap, J.G., 1993. Rett Syndrome: A Mitochondrial Dysfunction?. Pediatric Neurology Briefs, 7(6), pp.48–48. DOI: http://doi.org/10.15844/pedneurbriefs-7-6-11

Ultrastructural and biochemical alterations of muscle mitochondria are reported in two girls, aged 4 years, with Rett syndrome examined at the Institute of Neurological Sciences, University of Siena, Italy. Mitochondria were abnormally swollen and dumb-bell-shaped, and cytochrome c oxidase and NADH cytochrome c reductase were decreased in activity. The primary or secondary role of this mitochondrial pathology in the pathogenesis of the syndrome is undetermined. [1]

COMMENT. In contrast to the above, phosphorus magnetic resonance spectroscopy, proton MRS, muscle biopsies, and determination of pyruvate and lactate in plasma of 5 girls with Rett syndrome, examined at the John F Kennedy Institute, Glostrup, Denmark, failed to detect evidence for a mitochondrial disorder. [2]

References

Dotti, MT, Manneschi, L, Malandrini, A, De Stefano, N, Caznerale, F and Federico, A (1993). Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study. Brain Dev Mar-Apr 199315(2): 103–6, [PubMed] DOI: https://doi.org/10.1016/0387-7604(93)90045-A

Nielsen, JB Toft, PB Reske-Nielsen, E Jensen, KE Christiansen, P Thomsen, C et al. (1993). Cerebral magnetic resonance spectroscopy in Rett syndrome. Failure to detect mitochondrial disorder. Brain Dev Mar-Apr 199315(2): 107–12, [PubMed] DOI: https://doi.org/10.1016/0387-7604(93)90046-B

[CIT0001] Dotti, MT, Manneschi, L, Malandrini, A, De Stefano, N, Caznerale, F and Federico, A (1993). Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study. Brain Dev Mar-Apr 199315(2): 103–6, [PubMed] DOI: https://doi.org/10.1016/0387-7604(93)90045-A

[CIT0002] Nielsen, JB Toft, PB Reske-Nielsen, E Jensen, KE Christiansen, P Thomsen, C et al. (1993). Cerebral magnetic resonance spectroscopy in Rett syndrome. Failure to detect mitochondrial disorder. Brain Dev Mar-Apr 199315(2): 107–12, [PubMed] DOI: https://doi.org/10.1016/0387-7604(93)90046-B

Reading: Rett Syndrome: A Mitochondrial Dysfunction?

Metabolic Disorders

Rett Syndrome: A Mitochondrial Dysfunction?

Author:

J Gordon Millichap

Northwestern University Feinberg School of Medicine, US

X close

Abstract

References