Trondheim Natural Radiocarbon Measurements IV

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A Fatal, Systemic Mitochondrial Disease with Decreased Mitochondrial Enzyme Activities, Abnormal Ultrastructure of the Mitochondria and Deficiency of Heat Shock Protein 60

We report on a girl presenting with facial dysmorphic features and breathing difficulties upon birth. She was hypotonic, developed a metabolic acidosis, and died two days old of heart failure. Post-mortem examination revealed abnormalities of brain, lungs, heart and liver. In cultured skin fibroblasts activities of enzymes of oxidative phosphorylation, pyruvate metabolism, beta-oxidation and other mitochondrial (mt) metabolic pathways were markedly decreased. Activities of enzymes localized in the mt outer membrane or in other cell organelles were found to be normal. The mitochondria appeared swollen and were located mainly around the nucleus. Electron micrographs showed locally disintegrated mt inner membranes and large mt vacuoles. The amount of mt heat shock protein 60 (hsp60) was about one fifth of that in controls. We conclude that this mt disorder is most likely caused by defective synthesis and maintenance of mitochondria, possibly due to a defect in mt protein import or enzyme assembly resulting from deficiency of hsp60.

Sudden infant death syndrome (SIDS) - Standardised investigations and classification: Recommendations

Sudden infant death syndrome (SIDS) still accounts for considerable numbers of unexpected infant deaths in many countries. While numerous theories have been advanced to explain these events, it is increasingly clear that this group of infant deaths results from the complex interaction of a variety of heritable and idiosyncratic endogenous factors interacting with exogenous factors. This has been elegantly summarised in the "three hit" or "triple risk" model. Contradictions and lack of consistencies in the literature have arisen from diverse autopsy approaches, variable applications of diagnostic criteria and inconsistent use of definitions. An approach to Sudden infant death is outlined with discussion of appropriate tissue sampling, ancillary investigations and the use of controls in research projects. Standardisation of infant death investigations with the application of uniform definitions and protocols will ensure optimal investigation of individual cases and enable international comparisons of trends

The spectrum and severity of FUS-immunoreactive inclusions in the frontal and temporal lobes of ten cases of neuronal intermediate filament inclusion disease

Neuronal intermediate filament inclusion disease (NIFID), a rare form of frontotemporal lobar degeneration (FTLD), is characterized neuropathologically by focal atrophy of the frontal and temporal lobes, neuronal loss, gliosis, and neuronal cytoplasmic inclusions (NCI) containing epitopes of ubiquitin and neuronal intermediate filament proteins. Recently, the 'fused in sarcoma' (FUS) protein (encoded by the FUS gene) has been shown to be a component of the inclusions of familial amyotrophic lateral sclerosis with FUS mutation, NIFID, basophilic inclusion body disease, and atypical FTLD with ubiquitin-immunoreactive inclusions (aFTLD-U). To further characterize FUS proteinopathy in NIFID, and to determine whether the pathology revealed by FUS immunohistochemistry (IHC) is more extensive than a-internexin, we have undertaken a quantitative assessment of ten clinically and neuropathologically well-characterized cases using FUS IHC. The densities of NCI were greatest in the dentate gyrus (DG) and in sectors CA1/2 of the hippocampus. Anti-FUS antibodies also labeled glial inclusions (GI), neuronal intranuclear inclusions (NII), and dystrophic neurites (DN). Vacuolation was extensive across upper and lower cortical layers. Significantly greater densities of abnormally enlarged neurons and glial cell nuclei were present in the lower compared with the upper cortical laminae. FUS IHC revealed significantly greater numbers of NCI in all brain regions especially the DG. Our data suggest: (1) significant densities of FUS-immunoreactive NCI in NIFID especially in the DG and CA1/2; (2) infrequent FUS-immunoreactive GI, NII, and DN; (3) widely distributed vacuolation across the cortex, and (4) significantly more NCI revealed by FUS than a-internexin IHC