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Defective mitochondrial oxidative phosphorylation in myopathies with tubular aggregates originating from sarcoplasmic reticulum.
- Source :
-
Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2001 Nov; Vol. 60 (11), pp. 1032-40. - Publication Year :
- 2001
-
Abstract
- Abnormalities of the sarcotubular system presenting as tubular aggregates (TAs) have been described in a variety of neuromuscular disorders. Here, we report on immunohistochemical and biochemical findings in 7 patients (2 familial and 5 sporadic cases) suffering from myopathies with TAs. In muscle biopsy specimens from 5 of the 7 patients, TAs were immunopositive for the ryanodine receptor (RYR 1) of the sarcoplasmic reticulum (SR), the SR Ca2+ pump (SERCA2-ATPase), and the intraluminal SR Ca2+ binding protein calsequestrin, indicating an SR origin of these aggregates. Furthermore, these 5 cases showed decreased respiratory chain enzyme activities (NADH:CoQ oxidoreductase. complex I and cytochrome c oxidase [COX], complex IV), while the remaining 2 patients exhibited normal values. Our findings indicate a functional link between mitochondrial dysfunction and the presence of TAs originating from the sarcoplasmic reticulum.
- Subjects :
- Adult
Biopsy
Calcium-Transporting ATPases analysis
Calcium-Transporting ATPases immunology
Calsequestrin analysis
Calsequestrin immunology
Cell Respiration
DNA, Mitochondrial analysis
Energy Metabolism
Humans
Immunohistochemistry
Male
Microscopy, Electron
Middle Aged
Muscle Fibers, Skeletal chemistry
Muscle Fibers, Skeletal enzymology
Muscle Fibers, Skeletal ultrastructure
Muscle, Skeletal chemistry
Muscle, Skeletal metabolism
Muscle, Skeletal pathology
Oxidative Phosphorylation
Ryanodine Receptor Calcium Release Channel analysis
Ryanodine Receptor Calcium Release Channel immunology
Saponins
Sarcoplasmic Reticulum Calcium-Transporting ATPases
Titrimetry
Mitochondrial Myopathies metabolism
Mitochondrial Myopathies pathology
Sarcoplasmic Reticulum metabolism
Sarcoplasmic Reticulum pathology
Subjects
Details
- Language :
- English
- ISSN :
- 0022-3069
- Volume :
- 60
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Journal of neuropathology and experimental neurology
- Publication Type :
- Academic Journal
- Accession number :
- 11706933
- Full Text :
- https://doi.org/10.1093/jnen/60.11.1032