Socio-Economic Status and Pregnancy Outcome: An Australian Study

A prospective cohort of 8556 pregnant women attending the Mater Misericordiae Mothers' Hospital in Brisbane was examined to consider the impact of socio-economic status on pregnancy outcome. The indicators of socio-economic status selected were family income, maternal education and paternal occupational status. Pregnancy outcomes considered were preterm delivery, low birthweight, low birthweight for gestational age, and perinatal death. Subsidiary analyses were also undertaken for Apgar scores, time to establish respiration, need for mechanical respiration and admission to intensive care. Before adjustment, the main consistent association was between the occupational status of the father and three measures of perinatal morbidity. Initial adjustment for the mother's socio-demographic background and weight/height ratio reduced the strength and statistical significance of the above associations, while further adjustment for lifestyle variations between the three status groups further reduced the above associations to marginal statistical significance. The findings suggest that observed class differences in pregnancy outcome are attributable to the mother's personal characteristics (height/weight, parity) and her lifestyle

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Leigh syndrome (LS) is a severe neurodegenerative disorder with characteristic bilateral lesions, typically in the brainstem and basal ganglia. It usually presents in infancy and is genetically heterogeneous, but most individuals with mitochondrial complex IV (or cytochrome c oxidase) deficiency have mutations in the biogenesis factor SURF1. We studied eight complex IV-deficient LS individuals from six families of Lebanese origin. They differed from individuals with SURF1 mutations in having seizures as a prominent feature. Complementation analysis suggested they had mutation(s) in the same gene but targeted massively parallel sequencing (MPS) of 1,034 genes encoding known mitochondrial proteins failed to identify a likely candidate. Linkage and haplotype analyses mapped the location of the gene to chromosome 19 and targeted MPS of the linkage region identified a homozygous c.3G>C (p.Met1?) mutation in C19orf79. Abolishing the initiation codon could potentially still allow initiation at a downstream methionine residue but we showed that this would not result in a functional protein. We confirmed that mutation of this gene was causative by lentiviral-mediated phenotypic correction. C19orf79 was recently renamed PET100 and predicted to encode a complex IV biogenesis factor. We showed that it is located in the mitochondrial inner membrane and forms a ∼300 kDa subcomplex with complex IV subunits. Previous proteomic analyses of mitochondria had overlooked PET100 because its small size was below the cutoff for annotating bona fide proteins. The mutation was estimated to have arisen at least 520 years ago, explaining how the families could have different religions and different geographic origins within Lebanon