A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.

Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4.

[Stimulation by quinones of cyanide-resistant respiration in rat liver and heart mitochondria].

It was shown that hydrophilic benzo- and naphthoquinones stimulate the cyanide-resistant respiration in liver and muscle mitochondria when succinate or NADH and glutamate or malate are used as oxidation substrates. The substrate-dependent oxygen uptake in the presence of cyanide is initiated by menadione, vicasol, 1.2-naphthoquinone, coenzyme Q0 and duroquinone.

[Effect of polymyxins B and M on oxygen uptake by rat liver mitochondria].

Polycationic peptide antibiotics, polymixins B and M, are studied for their effect on oxygen uptake by rat liver mitochondria. They both inhibit the process at state 3 and 3p according to Chance. Low concentrations of polymixin M do not affect oxygen uptake by mitochondria at state 4, but its high concentrations inhibit it.

[Inhibition of respiration of mitochondria by o-phenanthroline in a constant magnetic field].

Preincubation of mitochondria treated with chelator of non-heme ferrum o-phenanthroline (0,067-0,267) for 20 min at 18 degrees C in the constant magnetic field of 330 mT brings about a decrease of the intensity of their uncoupled respiration with NAD-dependent substrates by 15-20% as compared to similar mitochondria preparations without the magnetic field effect. The latter is not realized during conjugated respiration with NAD-dependent substrates at uncoupled respiration with succinate, and in the absence of o-phenanthroline as well.

[Effect of polymyxin B on ion permeability of bacterial membranes].

Effect of polymyxin B on the movement of K+ and H+ in polymyxin-sensitive cells of E. coli under different metabolic states has been studied. It was shown that polymyxin B induced the efflux of K+, decreased the efflux of H+ and inhibited the consumption of oxygen in bacterial cells.

[Effect of polymyxin B on the conductivity of negatively charged bilayer lipid membranes].

Effect of polymyxin B on the planar bilayer lipid membranes (BLM) formed from synthetic phosphatidic acid has been studied. The addition of cholesterol to phospholipid in molar ratio 1 : 2 was followed by an increase of BLM conductance from 2 x 10(-8) to 3 x 10(-7) Ohm-1 cm-2. It was suggested that the observed increase of conductance was due to the fluidity of the membrane matrix in the presence of cholesterol.

[Effect of the polycationic antibiotic polymyxin B on the respiratory activity of rat liver mitochondria].

the mechanism of the effect of the peptide antibiotic polymixin B on respiration of rat liver mitochondria was studied. It was shown that polymixin B at concentrations of (1,6--2,0) . 10(-3) M inhibits mitochondrial respiration in state 3 and 3u irrespective of the oxidation substrate used and activates oxygen consumption in state 4 at lower concentrations.