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2008北京国际生理科学学术大会

作者： KRAVEnSKA E nALYVAYKO n fedirko n DUBITSKY L Department of Human and Animal Physiology Ivan Franko National University ofLvivUkraine

Mitochondrial Ca overload results in the activation of permeability transition pore in mitochondrial inner membrane resulting in swelling,developing of low energy state and inhibition of oxidative phosphorylation of the *** latter could initiate cell damage and *** the mechanism involved in mitochondrial swelling are *** aim of this study was to investigate the effect of thiol-containing ligands reagent dithiothreitol (DTT) on the Ca-,Cd- and n-ethylmaleimide(nEM)-induced mitochondrial *** experiments were performed on isolated mitochondria obtained by differential *** swelling was measured *** swelling was analyzed by three parameters:i) initial slow phase(lag time) of response;ii) peak amplitude;iii) maximal rate of *** showed,that addition of DTT(1 mmol/L) to the mitochondrial suspension caused no significant effect on the Ca-induced mitochondrial *** rates of the process,stimulated by 15 and 100 mmol/L of Ca were equal to 0.198±0.038 and 1.297±0.082 A/minxmg protein,the lag time -22.1±3.8 and 11.3±0.1 s and the peak amplitude -0.292±0.007 and 0.295±0.010 A/mg protein *** of mitochondria with DTT during 1 min caused changes in the magnitudes of the analyzed *** rates of the process were equal to 0.189±0.037 and 1.245±0.133 A/minxmg protein [that comprise of(96±19)%and(96±10)%compare to control(without DTT)],the lag time -24.3±3.2 and 11.8±0.3 s[(110±14)%and(105±2)%compare to control(without DTT)],the peak amplitude -0.265±0.007 and 0.283±0.015 A/mg protein[(91±2)%and(96±5)%compare to control(without DTT)]).Interestingly,DTT caused an opposite effect on the Cd-induced mitochondrial swelling(15 and 50 mmol/L) and completely inhibits this *** also observed an increase of all above-mentioned parameters of the nEM-induced mitochondrial swelling after mitochondria incubation with *** particular,the rate of the nEM-st

关键词： mitochondrial swelling permeability transition state SH-groups

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Lafora progressive myoclonus epilepsy: nHLRC1 mutations affect glycogen metabolism

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世界最新医学信息文摘 2015年第5期 6-6页

作者： Philippe Couarch Santiago Vernia Isabelle Gourfinkel-An Ga tan Lesca Svetlana Gataullina Estelle fedirko Oriane Trouillard Christel Depienne Olivier Dulac Dominique Steschenko Eric Leguern Pascual Sanz Stéphanie Baulac

Lafora disease is a fatal autosomal recessive formof progressive myoclonus epilepsy. Patients manifest myoclonus and tonic–clonic seizures, visual hallucinations, intellectual, and progressive neurologic deterioration beginning in *** two genes known to be involved in Lafora disease are EPM2 A and nHLRC1(EPM2B). The EPM2 A gene encodes laforin,a dual-specificity protein phosphatase, and the nHLRC1 gene encodes malin, an E3-ubiquitin ligase. The two proteins interact with each other and, as a complex, are thought to regulate glycogen synthesis. Here, we report three Lafora families with two novel pathogenic mutations(C46Y and L261P) and two recurrent mutations(P69A and D146n) in nHLRC1. Investigation of their functional consequences in cultured mammalian cells revealed that malin C46 Y, malin P69 A, malin D146 n, and malin L261 P mutants failed to downregulate the level of R5/PTG, a regulatory subunit of protein phosphatase 1 involved in glycogen synthesis. Abnormal accumulation of intracellular glycogen was observed with all malin mutants, reminiscent of the polyglucosan inclusions(Lafora bodies) present in patients with Lafora disease.

关键词： Epilepsy Mendelian disorder Genetics Autosomal recessive

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