Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth

We describe two newborn sisters who presented in the third trimester with diminished fetal movements and skin edema, but with no other signs of hydrops fetalis. Within hours of birth, both developed profound lactic acidemia, followed by multi-organ failure. In muscle mitochondria, the activity of all enzymatic complexes that contain mitochondrial DNA (mtDNA)-encoded subunits was markedly decreased. Southern blot analysis revealed a profound reduction in the mtDNA/nuclear DNA ratio, implying mtDNA depletion. The prenatal identification of skin edema in two patients with mtDNA depletion, and its absence in a healthy sibling, suggest that skin edema should be regarded as a novel manifestation of mtDNA depletion. This finding shows that mtDNA depletion can present prenatally and, consequently, may aid the clinician in making a diagnosis, prenatally, of this genetic defect. Copyright © 2002 John Wiley & Sons, Ltd.     

Faecal and nitrate contamination in the groundwater of Mardan district,Pakistan

Environmental Geochemistry and Health - This study aimed to determine the status of groundwater contamination with faecal coliform and nitrate in the rural areas of Mardan district, Pakistan. Both...     

Radical Scavengers Suppress Low Frequency EMF Enhanced Proliferation in Cultured Cells and Stress Effects in Higher Plants

Summary In previous publications, we reported that sinusoidal varying magnetic fields (SVMF) modify the activity and dynamics of the malignancy marker adenosine deaminase, and enhance the proliferation of chick embryo fibroblasts (CEF). While the SVMF examined by us (50, 60 & 100 Hz / 0.06–0.7 mT) were all below kT, they may have the potential of altering chemical processes in which excited radicals are involved. We tested this hypothesis in two experimental systems: CEF in culture and Spirodela oligorrhiza (Lemnaceae) (a small aquatic plant, commonly known as Duckweed). CEF were exposed to SVMF of 100 Hz/0.7 mT for 24 h. The addition of the exogenous radical scavengers catalase, superoxide dismutase or vitamin E to the cells during exposure significantly suppressed enhancement of cell proliferation caused by the field (by 79, 67 and 82%, respectively, as evaluated by the MTT colorimetric assay). ¹⁵N NMR analysis of Duckweed plants fed by ¹⁵N-labeled ammonium chloride and exposed to SVMF at 60 and 100 Hz/0.7 mT for 24 h, revealed augmented alanine production. Alanine did not accumulate in the absence of SVMF. The addition of vitamin C, a radical scavenger, reduced alanine production by 82%. Exposure to SVMF resulted in specific metabolic stress effects in Duckweed plants and enhanced proliferation of CEF. In both cases, it is suggested that free radicals are involved.