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- Horvath, Rita, et al.
(författare)
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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
- 2009
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Ingår i: Brain : a journal of neurology. - : Oxford University Press (OUP). - 1460-2156. ; 132:Pt 11, s. 3165-74
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Tidskriftsartikel (refereegranskat)abstract
- Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to decide when to continue intensive supportive care. Here we define the principal molecular basis of the disorder by identifying a maternally inherited, homoplasmic m.14674T>C mt-tRNA(Glu) mutation in 17 patients from 12 families. Our results provide functional evidence for the pathogenicity of the mutation and show that tissue-specific mechanisms downstream of tRNA(Glu) may explain the spontaneous recovery. This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis.
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| 3. |
- Darakchieva, Vanya, 1971-, et al.
(författare)
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Anisotropic strain and phonon deformation potentials in GaN
- 2007
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 75:19, s. 195217-
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Tidskriftsartikel (refereegranskat)abstract
- We report optical phonon frequency studies in anisotropically strained c -plane- and a -plane-oriented GaN films by generalized infrared spectroscopic ellipsometry and Raman scattering spectroscopy. The anisotropic strain in the films is obtained from high-resolution x-ray diffraction measurements. Experimental evidence for splitting of the GaN E1 (TO), E1 (LO), and E2 phonons under anisotropic strain in the basal plane is presented, and their phonon deformation potentials c E1 (TO), c E1 (LO), and c E2 are determined. A distinct correlation between anisotropic strain and the A1 (TO) and E1 (LO) frequencies of a -plane GaN films reveals the a A1 (TO), b A1 (TO), a E1 (LO), and b E1 (LO) phonon deformation potentials. The a A1 (TO) and b A1 (TO) are found to be in very good agreement with previous results from Raman experiments. Our a A1 (TO) and a E1 (LO) phonon deformation potentials agree well with recently reported theoretical estimations, while b A1 (TO) and b E1 (LO) are found to be significantly larger than the theoretical values. A discussion of the observed differences is presented. © 2007 The American Physical Society.
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| 4. |
- Hellberg, D, et al.
(författare)
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Kinetics of liposome adhesion on a mercury electrode
- 2005
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Ingår i: Journal of Physical Chemistry B. - : American Chemical Society (ACS). - 1520-6106 .- 1520-5207. ; 109, s. 14715-14726
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Tidskriftsartikel (refereegranskat)abstract
- The adhesion of liposomes on a mercury electrode leads to capacitive signals due to the formation of islands of lecithin monolayers. Integration of the current-time transients gives charge-time transients that can be fitted by the empirical equation Q(t) = Q(0) + Q(1)(1 - exp(-t/tau(1))) + Q(2)(1 - exp(-t/tau(2))), where the first term on the right side is caused by the docking of the liposome on the mercury surface, the second term is caused by the opening of the liposome, and the third term is caused by the spreading of the lecithin island on the mercury surface. The temperature dependence of the two time constants tau(1) and tau(2) and the temperature dependence of the overall adhesion rate allow determination of the activation energies of the opening, the spreading, and the overall adhesion process both for gel-phase 1,2-dimyristoyl-sn-glycero-3-phosphocholine (DMPC) and for liquid-crystalline-phase DMPC liposomes. In all cases, the spreading is the rate-determining process. Negative apparent activation energies for the spreading and overall adhesion process of liquid-crystalline-phase DMPC liposomes can be explained by taking into account the weak adsorption equilibria of the intact liposomes and the opened but not yet spread liposomes. A formal kinetic analysis of the reaction scheme supports the empirical equation used for fitting the charge-time transients. The developed kinetic model of liposome adhesion on mercury is similar to kinetic models published earlier to describe the fusion of liposomes. The new approach can be used to probe the stability of liposome membranes.
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| 9. |
- Scholz, Hanne, et al.
(författare)
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The synthetic liver X receptor agonist GW3965 reduces tissue factor production and inflammatory responses in human islets in vitro
- 2009
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Ingår i: Diabetologia. - : Springer Science and Business Media LLC. - 0012-186X .- 1432-0428. ; 52:7, s. 1352-62
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Tidskriftsartikel (refereegranskat)abstract
- AIMS/HYPOTHESIS: Optimising islet culture conditions may be one strategy for reducing islet loss prior to, and immediately after, islet transplantation. Liver X receptor (LXR) agonism has previously been shown to increase insulin release from pancreatic islets and reduce inflammation in leucocytes. Our aim was to investigate whether the synthetic LXR agonist GW3965 could modulate the inflammatory status of human pancreatic islets. METHODS: Levels of pro-inflammatory cytokines and tissue factor in isolated human islets were determined by TaqMan low density array and/or real-time quantitative RT-PCR (mRNA levels) and enzyme immunoassay (EIA) (protein levels). Islet viability was measured using intracellular ATP content, ADP/ATP ratio, mitochondrial dehydrogenase activity (XTT assay) and insulin secretion in a dynamic glucose-challenge model. Apoptosis was determined by EIA measurement of histone-DNA complexes present in cytoplasm and by assaying caspase-3/-7 activity. RESULTS: Treatment of LPS-stimulated human islets with the synthetic LXR agonist GW3965 (1 micromol/l) for 24 h reduced mRNA and protein levels of selected pro-inflammatory cytokines (IL-8, monocyte chemotactic protein-1 and tissue factor). Moreover, GW3965 had no adverse effect on insulin secretion, islet viability or apoptosis. No excess of lipid accumulation could be detected with the dosage and exposure time used. CONCLUSIONS/INTERPRETATION: LXR activation suppresses inflammation in human islets in vitro without adverse effects on islet viability. Short-term moderate activation of LXR prior to islet transplantation may represent a possible strategy for improving post-transplant islet survival.
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