Evidence for tuberculosis in 18th/19th century slaves in Anse Sainte-Marguerite (Guadeloupe - French Western Indies)

During the American colonization in the 18th and 19th century, Africans were captured and shipped to America. Harsh living and working conditions often led to chronic diseases and high mortality rates. Slaves in the Caribbean were forced to work mainly on sugar plantations. They were buried in cemeteries like Anse Sainte-Marguerite on the isle of Grande-Terre (Guadeloupe) which was examined by archaeologists and physical anthropologists. Morphological studies on osseous remains of 148 individuals revealed 15 cases with signs for bone tuberculosis and a high frequency of periosteal reactions which indicates early stages of the disease. 11 bone samples from these cemeteries were analysed for ancient DNA. The samples were extracted with established procedures and examined for the cytoplasmic multicopy β-actin gene and Mycobacterium tuberculosis complex DNA (IS 6110) by PCR. An amplification product for M. tuberculosis with the size of 123 bp was obtained. Sequencing confirmed the result. This study shows evidence of M. tuberculosis complex DNA in a Caribbean slave population.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

OBJECTIVE Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme that is involved in the oxidation of fatty acids and essential amino acids such as valine. Here, we describe the broad phenotypic spectrum and pathobiochemistry of individuals with autosomal-recessive ECHS1 deficiency. METHODS Using exome sequencing, we identified ten unrelated individuals carrying compound heterozygous or homozygous mutations in ECHS1. Functional investigations in patient-derived fibroblast cell lines included immunoblotting, enzyme activity measurement, and a palmitate loading assay. RESULTS Patients showed a heterogeneous phenotype with disease onset in the first year of life and course ranging from neonatal death to survival into adulthood. The most prominent clinical features were encephalopathy (10/10), deafness (9/9), epilepsy (6/9), optic atrophy (6/10), and cardiomyopathy (4/10). Serum lactate was elevated and brain magnetic resonance imaging showed white matter changes or a Leigh-like pattern resembling disorders of mitochondrial energy metabolism. Analysis of patients' fibroblast cell lines (6/10) provided further evidence for the pathogenicity of the respective mutations by showing reduced ECHS1 protein levels and reduced 2-enoyl-CoA hydratase activity. While serum acylcarnitine profiles were largely normal, in vitro palmitate loading of patient fibroblasts revealed increased butyrylcarnitine, unmasking the functional defect in mitochondrial β-oxidation of short-chain fatty acids. Urinary excretion of 2-methyl-2,3-dihydroxybutyrate - a potential derivative of acryloyl-CoA in the valine catabolic pathway - was significantly increased, indicating impaired valine oxidation. INTERPRETATION In conclusion, we define the phenotypic spectrum of a new syndrome caused by ECHS1 deficiency. We speculate that both the β-oxidation defect and the block in l-valine metabolism, with accumulation of toxic methacrylyl-CoA and acryloyl-CoA, contribute to the disorder that may be amenable to metabolic treatment approaches.

Tuberculosis in early medieval Switzerland - osteological and molecular evidence

Lesions consistent with skeletal tuberculosis were found in 13 individuals from an early medieval skeletal sample from Courroux (Switzerland). One case of Pott’s disease as well as lytic lesions in vertebrae and joints, rib lesions, and endocranial new bone formation were identified. Three individuals with lesions and one without were tested for the presence of MTBC aDNA, and in two cases, evidence for MTBC aDNA was detected. Our results suggest the presence of tuberculosis in the analyzed material which is in accordance with other osteological and biomolecular research that reported high prevalence of tuberculosis in medieval skeletons.

Pasajes memorialistas en la literatura misionera. 16H273

Lista de actividades realizadas durante el período: Se trata de las actividades efectivamente realizadas durante el período de referencia. Pueden ser las mismas que las incluidas en el Proyecto, pero también pueden aparecer nuevas actividades que no hayan sido previstas originalmente. Esta sección puede ser publicada en la página de la Facultad y de la Universidad. Informe Final de lecturas realizadas sobre textos memorialistas de la literatura misionera. Tratamientos sobre los pasajes de: a) La memoria de la ciudad; Trabajo final a cargo de la Mgtr. Silvia Esther Ferrari de Zink, Mgtr. Javier Horacio Figueroa y la Ayt. Ad honorem Marcela Alejandra Ruíz. b) La memoria del río (mensú); Trabajo final a cargo de la Pr. Gisel Kabut. c) La memoria de los inmigrantes: Trabajo final a cargo de la Pr. Rosanna Solis y la Pr. Noelia Albrecht.

Organic geochemistry of deep sea sediments from the Nankai Trough and the Southwest Japan forearc region

Earth's largest reactive carbon pool, marine sedimentary organic matter, becomes increasingly recalcitrant during burial, making it almost inaccessible as a substrate for microorganisms, and thereby limiting metabolic activity in the deep biosphere. Because elevated temperature acting over geological time leads to the massive thermal breakdown of the organic matter into volatiles, including petroleum, the question arises whether microorganisms can directly utilize these maturation products as a substrate. While migrated thermogenic fluids are known to sustain microbial consortia in shallow sediments, an in situ coupling of abiotic generation and microbial utilization has not been demonstrated. Here we show, using a combination of basin modelling, kinetic modelling, geomicrobiology and biogeochemistry, that microorganisms inhabit the active generation zone in the Nankai Trough, offshore Japan. Three sites from ODP Leg 190 have been evaluated, namely 1173, 1174 and 1177, drilled in nearly undeformed Quaternary and Tertiary sedimentary sequences seaward of the Nankai Trough itself. Paleotemperatures were reconstructed based on subsidence profiles, compaction modelling, present-day heat flow, downhole temperature measurements and organic maturity parameters. Today's heat flow distribution can be considered mainly conductive, and is extremely high in places, reaching 180 mW/m**2. The kinetic parameters describing total hydrocarbon generation, determined by laboratory pyrolysis experiments, were utilized by the model in order to predict the timing of generation in time and space. The model predicts that the onset of present day generation lies between 300 and 500 m below sea floor (5100-5300 m below mean sea level), depending on well location. In the case of Site 1174, 5-10% conversion has taken place by a present day temperature of ca. 85 °C. Predictions were largely validated by on-site hydrocarbon gas measurements. Viable organisms in the same depth range have been proven using 14C-radiolabelled substrates for methanogenesis, bacterial cell counts and intact phospholipids. Altogether, these results point to an overlap of abiotic thermal degradation reactions going on in the same part of the sedimentary column as where a deep biosphere exists. The organic matter preserved in Nankai Trough sediments is of the type that generates putative feedstocks for microbial activity, namely oxygenated compounds and hydrocarbons. Furthermore, the rates of thermal degradation calculated from the kinetic model closely resemble rates of respiration and electron donor consumption independently measured in other deep biosphere environments. We deduce that abiotically driven degradation reactions have provided substrates for microbial activity in deep sediments at this convergent continental margin.