Diagnosing OXPHOS defects

Protons are pumped from the mitochondrial matrix into the intermembrane space via oxidative phosphorylation (OXPHOS), creating an electric membrane potential (Δψ) that is used for production of adenosine triphosphate. Defects in one or more of the OXPHOS complexes are associated with a variety of clinical symptoms, often making it difficult to pinpoint the causal mutation. Imaging of Δψ in cultured skin fibroblasts appears to be a useful method for evaluating OXPHOS function in cultured cell lines.

See Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects

Copper trafficking

Menkes disease (MD) is a disorder of copper transport caused by ATP7A mutations. Munakata and colleagues investigated the copper-trafficking efficacy of copper-pyruvaldehyde bis(N4-methylthiosemicarbazone) (Cu-PTSM), a lipophilic copper complex, in a macular mice model of MD. Although the copper-trafficking efficacy of Cu-PTSM was limited, the improved CO activity in the brain suggests that Cu-PTSM delivers copper more effectively to neuronal CO than does CuCl2.

See Copper-trafficking efficacy of copper-pyruvaldehyde bis (N 4 -methylthiosemicarbazone) on the macular mouse, an animal model of Menkes disease

LPS and white matter

The precise neuroanatomical and microstructural consequences of fetal inflammation remain largely unknown. van de Looij et al. characterize changes in white-matter structure following lipopolysaccharide (LPS) exposure by comparing advanced magnetic resonance imaging with histopathological correlates in preterm-equivalent fetal sheep, which have a white-matter structure similar to that of the human brain.

See High-field diffusion tensor imaging characterization of cerebral white matter injury in lipopolysaccharide-exposed fetal sheep

Sleep, breathing, and obesity

Lesser and colleagues hypothesized that the severity of sleep-related breathing disorder (SRBD) in adolescents is associated with metabolic impairment. Their results suggest that sleep fragmentation and intermittent hypoxemia might lead to metabolic impairment in obese adolescent Latino males, independent of age and adiposity. In addition, SRBD may increase the risk of metabolic syndrome and type 2 diabetes in obese adolescents.

See Sleep fragmentation and intermittent hypoxemia are associated with decreased insulin sensitivity in obese adolescent Latino males

Stress and intrauterine growth

In humans, the relationship between intrauterine stress and fetal well-being is still unclear. Hompes et al. investigated the influence of maternal cortisol and emotional state during pregnancy on fetal intrauterine growth. Their results suggest that both these factors might affect fetal growth, albeit differentially at different time points during gestation.

See The influence of maternal cortisol and emotional state during pregnancy on fetal intrauterine growth