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1.
Catalase enzyme mutations and their association with diseases. 总被引:2,自引:0,他引:2
Enzyme catalase seems to be the main regulator of hydrogen peroxide metabolism. Hydrogen peroxide at high concentrations is a toxic agent, while at low concentrations it appears to modulate some physiological processes such as signaling in cell proliferation, apoptosis, carbohydrate metabolism, and platelet activation. Benign catalase gene mutations of 5' noncoding region (15) and intron 1 (4) have no effect on catalase activity and are not associated with disease.Catalase gene mutations have been detected in association with diabetes mellitus, hypertension, and vitiligo. Decreases in catalase activity in patients with tumors is more likely to be due to decreased enzyme synthesis rather than to catalase mutations.Acatalasemia, the inherited deficiency of catalase has been detected in 11 countries. Its clinical features might be oral gangrene, altered lipid, carbohydrate, homocysteine metabolism and the increased risk of diabetes mellitus. The Japanese, Swiss, and Hungarian types of acatalasemia display differences in biochemical and genetic aspects. However, there are only limited reports on the syndrome causing these mutations.These data show that acatalasemia may be a syndrome with clinical, biochemical, genetic characteristics rather than just a simple enzyme deficiency. 相似文献
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Anik Chevrier Ahou S. M. Kouao Genevieve Picard Mark B. Hurtig Michael D. Buschmann 《Journal of orthopaedic research》2015,33(1):63-70
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Simon D?hrmann Sabina Anik Joshua Olson Ericka L. Anderson Neelou Etesami Hyewon No Joshua Snipper Victor Nizet Cheryl Y. M. Okumura 《Infection and immunity》2014,82(10):4011-4020
Streptococcal collagen-like protein 1 (Scl-1) is one of the most highly expressed proteins in the invasive M1T1 serotype group A Streptococcus (GAS), a globally disseminated clone associated with higher risk of severe invasive infections. Previous studies using recombinant Scl-1 protein suggested a role in cell attachment and binding and inhibition of serum proteins. Here, we studied the contribution of Scl-1 to the virulence of the M1T1 clone in the physiological context of the live bacterium by generating an isogenic strain lacking the scl-1 gene. Upon subcutaneous infection in mice, wild-type bacteria induced larger lesions than the Δscl mutant. However, loss of Scl-1 did not alter bacterial adherence to or invasion of skin keratinocytes. We found instead that Scl-1 plays a critical role in GAS resistance to human and murine phagocytic cells, allowing the bacteria to persist at the site of infection. Phenotypic analyses demonstrated that Scl-1 mediates bacterial survival in neutrophil extracellular traps (NETs) and protects GAS from antimicrobial peptides found within the NETs. Additionally, Scl-1 interferes with myeloperoxidase (MPO) release, a prerequisite for NET production, thereby suppressing NET formation. We conclude that Scl-1 is a virulence determinant in the M1T1 GAS clone, allowing GAS to subvert innate immune functions that are critical in clearing bacterial infections. 相似文献
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Control mechanisms of mitochondrial Ca(2+) uptake - feed-forward modulation of aldosterone secretion
Mitochondrial Ca(2+) signal activates metabolism by boosting pyridine nucleotide reduction and ATP synthesis or, if Ca(2+) sequestration is supraphysiological, may even lead to apoptosis. Although the molecular background of mitochondrial Ca(2+) uptake has recently been elucidated, the regulation of Ca(2+) handling is still not properly clarified. In human adrenocortical H295R cells we found a regulatory mechanism involving p38 MAPK and novel-type PKC isoforms. Upon stimulation with angiotensin II (AII) these kinases are activated typically prior to the release of Ca(2+) and - most probably by reducing the Ca(2+) permeation through the outer mitochondrial membrane - attenuate mitochondrial Ca(2+) uptake in a feed-forward manner. The biologic significance of the kinase-mediated reduction of mitochondrial Ca(2+) signal is also reflected by the attenuation of AII-mediated aldosterone secretion. As another feed-forward mechanism, we found in HEK-293T and H295R cells that Ca(2+) signal evoked either by IP(3) or by voltage-gated influx is accompanied by a concomitant cytosolic Mg(2+) signal. In permeabilized HEK-293T cells Mg(2+) was found to be a potent inhibitor of mitochondrial Ca(2+) uptake in the physiologic [Mg(2+)] and [Ca(2+)] range. Thus, these inhibitory mechanisms may serve not only as protection against mitochondrial Ca(2+) overload and subsequent apoptosis but also have the potential to substantially alter physiological responses. 相似文献
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Tamás Tényi Anikó Somogyi Edina Hamvas Róbert Herold Viktor Vörös Mátyás Trixler 《International journal of psychiatry in clinical practice》2013,17(3):220-222
Objective. The authors report a case during which they observed serious subtypes of induced delusional psychosis (folie communiquée and folie simultanée) without any common genetic background or premorbid psychosis in the case of the secondary patient. Method. The clinical phenomenology of the case is described. Results. Mild intellectual disability and environmental–psychological factors (social isolation and the symbiotic-like interpersonal relatedness) play an essential aetiological role in the case of the secondary recipient patient. Conclusion. The authors emphasize the importance of subclassification of induced delusional psychosis for further aetiological and clinical research. 相似文献
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Adaptation or recovery after health shocks? Evidence using subjective and objective health measures
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In this paper, we analyse the effect of an onset of a health shock on subjective survival probability and compare it with objective survival probability and self‐reported health measures. In particular, we are interested in whether expectations of people respond to health shocks and whether these follow the evolution of objective life expectations and self‐reported health measures over time. Using longitudinal data from the Health and Retirement Study, we estimate fixed effects models of adaptation for the objective and subjective survival probabilities and for some self‐reported health measures. The results show that after cancer diagnosis, conditional on surviving, both the objective and subjective longevity and self‐reported health measures drift back to the before diagnosis trajectories. For stroke and heart attack, in spite of their persistent negative effect on survival, subjective life expectations and self‐reported health measures seem to indicate only a transient effect of the health shock. The differences between the objective and subjective measures are in line with the concept of adaptation. We discuss the policy implications of our results. 相似文献
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Kiss Norbert Fésűs Luca Bozsányi Szabolcs Szeri Flóra Van Gils Matthias Szabó Viktória Nagy Anikó Ilona Hidvégi Bernadett Szipőcs Róbert Martin Ludovic Vanakker Olivier Arányi Tamás Merkely Béla Wikonkál Norbert M. Medvecz Márta 《Lasers in medical science》2020,35(8):1821-1830
Lasers in Medical Science - Pseudoxanthoma elasticum (PXE, OMIM 264800) is a rare autosomal recessive disorder with ectopic mineralization and fragmentation of elastin fibers. It is caused by... 相似文献