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Lipotoxic cardiomyopathy dissected

By | April 10, 2001

Inherited defects in the mitochondrial fatty acid oxidation pathway can lead to lipotoxic cardiomyopathy and sudden death in children and young adults. The exact chain of pathologic events remains unknown, but in the 1 April Journal of Clinical Investigation Hsiu-Chiang Chiu and colleagues from Washington University School of Medicine describe the development of a murine model of metabolic cardiomyopathy. The study also suggests that lipotoxic cardiomyopathy is based on a mismatch between myocar

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Long-lived flies

By | April 10, 2001

Mutations that increase the life span of Caenorhabditis elegans encode components of the insulin/IGF signalling pathway. In the April 6 Science, two papers describe mutations that link insulin signaling with longevity in Drosophila melanogaster. Clancy et al. report that homozygous null mutations in chico, encoding an insulin receptor substrate protein, increased the female fly life span by up to 48% (Science 2001, 292:104-106). They were able to demonstrate that the effects of chico on longevit

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Genetic predisposition for osteoporosis

By | April 9, 2001

COL1A1 Sp1 polymorphism predisposes osteoporosis by mechanisms involving changes in bone mass and bone quality.

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Modulation by matrix

By | April 9, 2001

Interactions of cells with the extracellular matrix (ECM), via the integrin receptors, modulate cell proliferation, survival and differentiation. In the April 10 Proceedings of the National Academy of Sciences, Yarwood and Woodgett describe how the make up of the ECM can affect the cellular response to growth-factor stimulation (Proc Natl Acad Sci USA 2001, 98:4472-4477). They used cDNA microarrays to analyse over 1,718 human genes and measure changes in gene expression when cells were plated on

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Urine mRNA can predict kidney transplant rejection

By | April 9, 2001

Levels of mRNA for perforin and granzyme B are high in urinary cells from patients with acute transplant rejection.

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Calcium dependent gene regulation

By | April 6, 2001

Calcium plays an essential role in lymphocyte activation and maturation but the exact effect on gene expression is not known. In April Nature Immunology Stefan Feske and colleagues from Harvard Medical School present evidence that Ca2+-dependent signalling pathways mediate both gene induction and gene repression in activated T cells.In the absence of specific inhibitors, they looked at cell lines from two severe-combined immunodeficiency (SCID) patients that are characterised by a strong defect

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Leprosy locus

By | April 6, 2001

There appears to be a genetic contribution to the susceptibility to leprosy, and high concordance rates have been observed amongst monozygotic Indian twins. In the April Nature Genetics, Siddiqui et al. report the identification of a major susceptibility locus for leprosy (Nature Genetics 2001, 27:439-441). They performed a genome-wide scan of 245 independent affected sibpairs from Southern India, using 396 highly polymorphic microsatellite markers. Only one region showed a MLS (maximum lod scor

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Why eating bacteria is good for you

By | April 6, 2001

GG given prenatally to mothers with a family history of atopy and postnatally for 6 months to their infants reduced the frequency of atopy by half.

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a translation

By | April 5, 2001

Scientists have compared reading European Union research proposals to coping with Foucault. We make an attempt to understand the latest one.

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Are SNPs useful?

By | April 5, 2001

In the April Nature Genetics, Marth et al. ask the question how useful are the single-nucleotide polymorphisms (SNPs) available in the public-access databases (Nature Genetics 2001, 27:371-372). The public database dbSNP currently holds over 2.8 million SNPs, but as few as 15% have been proven to be genuinely polymorphic. Marth et al. performed two pilot studies to test the genetic utility of candidate SNPs. They analysed over 1200 candidate SNPs and tested their frequency in three ethnic groups

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