Heavy Metal, Organochlorine Pesticide and Polychlorinated Biphenyl Contamination in Arctic Ground Squirrels (Spermophilus Parryi) in Northern Alaska

Heavy metal and organochlorine (OC) concentrations including organochlorine pesticides and polychlorinated biphenyl congeners (PCBs), were determined in arctic ground squirrels (Spermophilus parryi) from three sites in the Brooks Range of northern Alaska in 1991-93. Heavy metals were present in most squirrel livers collected, with concentrations of trace elements (As, Cd, Hg, Ni, and Pb) averaging below 1 micro g/g wet weight. Hexachlorobenzene (HCB), p,p'-DDE, gamma hexachlorocyclohexane (gamma-HCH), trans-nonachlor, and PCBs 138, 153, and 170 were the most frequently detected OCs in fat and liver. Average concentrations of individual OC analytes were below 20 ng/g wet weight in liver and below 15 ng/g wet weight in fat. Rank correlations indicate that concentrations of heavy metals and of OCs accumulate in concert with one another (As, Cd, Cu, and Zn; PCBs 138, 170, and 180). Although heavy metal and OC concentrations are low relative to other areas and other arctic species, the occurrence of these compounds illustrates the global pervasiveness of persistent organic compounds and the potential for bioaccumulation in the terrestrial arctic food web.De 1991 à 1993, on a mesuré les concentrations en métaux lourds et en organochlorés, y compris des pesticides organochlorés et des congénères du diphényle polychloré (PCB), chez le spermophile arctique (Spermophilus parryi) à trois endroits situés dans la chaîne de Brooks de l'Alaska septentrional. On a trouvé des métaux lourds dans la plupart des foies de spermophiles prélevés, avec des concentrations en éléments traces (As, Cd, Hg, Ni et Pb) inférieures en moyenne à 1 µg/g de poids frais. L'hexachlorobenzène (HCB), le p,p'-DDE, l'hexachlorocyclohexane gamma (HCH-gamma), le trans-nonachlore et les PCB 138, 153 et 170 étaient les organochlorés les plus fréquemment détectés dans le tissu adipeux et le foie. Les concentrations moyennes des organochlorés analysés individuellement étaient inférieures à 20 ng/g de poids frais pour le foie et à 15 ng/g de poids frais pour le tissu adipeux. Les corrélations de rang révèlent que les concentrations en métaux lourds augmentent de concert avec celles en organochlorés (As, Cd, Cu et Zn; PCB 138, 170 et 180). Bien que les concentrations en métaux lourds et en organochlorés soient faibles par rapport à celles d'autres régions et à celles d'autres espèces arctiques, la présence de ces composés illustre l'omniprésence planétaire de composés organiques persistants et le potentiel pour une accumulation biologique dans le réseau trophique terrestre de l'Arctique

Mercury methylation in mine wastes collected from abandoned mercury mines in the USA

Speciation and transformation of Hg was studied in mine wastes collected from abandoned Hg mines at McDermitt, Nevada, and Terlingua, Texas, to evaluate formation of methyl-Hg, which is highly toxic. In these mine wastes, we measured total Hg and methyl-Hg contents, identified various Hg compounds using a pyrolysis technique, and determined rates of Hg methylation and methyl-Hg demethylation using isotopic-tracer methods. Mine wastes contain total Hg contents as high as 14000 $\mu$/g and methyl-Hg concentrations as high as 88 ng/g. Mine wastes were found to contain variable amounts of cinnabar, metacinnabar, Hg salts, Hg°, and Hg° and Hg$^{2+}$ sorbed onto matrix particulates. Samples with Hg° and matrix-sorbed Hg generally contained significant methyl-Hg contents. Similarly, samples containing Hg° compounds generally produced significant Hg methylation rates, as much as 26%/day. Samples containing mostly cinnabar showed little or no Hg methylation. Mine wastes with high methyl-Hg contents generally showed low methyl-Hg demethylation, suggesting that Hg methylation was dominant. Methyl-Hg demethylation was by both oxidative and microbial pathways. The correspondence of mine wastes containing Hg° compounds and measured Hg methylation suggests that Hg° oxidizes to Hg$^{2+}$, which is subsequently bioavailable for microbial Hg methylation

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

The mitochondrial malate aspartate shuttle system (MAS) maintains the cytosolic NAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such as glycolysis and serine biosynthesis. Human disease has been associated with defects in four MAS-proteins (encoded by MDH1, MDH2, GOT2, SLC25A12) sharing a neurological/epileptic phenotype, as well as citrin deficiency (SLC25A13) with a complex hepatopathic-neuropsychiatric phenotype. Ketogenic diets (KD) are high-fat/low-carbohydrate diets, which decrease glycolysis thus bypassing the mentioned defects. The same holds for mitochondrial pyruvate carrier (MPC) 1 deficiency, which also presents neurological deficits. We here describe 40 (18 previously unreported) subjects with MAS-/MPC1-defects (32 neurological phenotypes, eight citrin deficiency), describe and discuss their phenotypes and genotypes (presenting 12 novel variants), and the efficacy of KD. Of 13 MAS/MPC1-individuals with a neurological phenotype treated with KD, 11 experienced benefits-mainly a striking effect against seizures. Two individuals with citrin deficiency deceased before the correct diagnosis was established, presumably due to high-carbohydrate treatment. Six citrin-deficient individuals received a carbohydrate-restricted/fat-enriched diet and showed normalisation of laboratory values/hepatopathy as well as age-adequate thriving. We conclude that patients with MAS-/MPC1-defects are amenable to dietary intervention and that early (genetic) diagnosis is key for initiation of proper treatment and can even be lifesaving