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1.
Biochem Biophys Rep ; 8: 48-54, 2016 Dec.
Article in English | MEDLINE | ID: mdl-28955941

ABSTRACT

Penetrance and age of onset of ATTRV30M amyloidotic neuropathy varies significantly among different populations. This variability has been attributed to both genetic and environmental modifiers. We studied the effect of genetic background on phenotype in two lines of transgenic mice bearing the same ATTRV30M transgene. Amyloid deposition, transthyretin (TTR), megalin, clusterin and disease markers of endoplasmic reticulum stress, the ubiquitin-proteasome system, apoptosis, and complement activation were assessed with WB and immunohistochemistry in donor and recipient tissue. Our results indicate that genetic background modulates amyloid deposition by influencing TTR handling in recipient tissue and may partly account for the marked variability in penetrance observed in various world populations.

2.
Ultrastruct Pathol ; 29(3-4): 169-74, 2005.
Article in English | MEDLINE | ID: mdl-16036873

ABSTRACT

Mitochondrial encephalomyopathies (MEs) encompass a heterogeneous group of disorders that frequently present a diagnostic challenge to clinicians. Historically, MEs were diagnosed by finding ragged red fibers in the muscle biopsy and confirmatory evidence was provided by the presence of numerical and/or ultrastructural abnormalities in mitochondria. In most centers diagnosis involves clinical evaluation and the morphological, histochemical, and biochemical investigation of a skeletal muscle biopsy. However, with the availability of mitochondrial DNA analysis, the necessity and role of morphological methods and, in particular, electron microscopy has been questioned. The aim of this study was to delineate the role of electron microscopy in the diagnosis of MEs.


Subject(s)
Microscopy, Electron/methods , Mitochondrial Encephalomyopathies/diagnosis , Muscles/ultrastructure , Adolescent , Adult , Aged , Child , Child, Preschool , Electron Transport Complex IV/metabolism , Female , Histocytochemistry , Humans , Infant , Infant, Newborn , Male , Middle Aged , Mitochondria, Muscle/pathology , Mitochondria, Muscle/ultrastructure , Mitochondrial Encephalomyopathies/enzymology , Muscle Fibers, Skeletal/metabolism , Muscle Fibers, Skeletal/pathology , Muscle Fibers, Skeletal/ultrastructure , Muscles/enzymology , Muscles/pathology , Reproducibility of Results , Sensitivity and Specificity , Succinate Dehydrogenase/metabolism
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