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.