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New Insights into the Molecular Basis of the Antiphospholipid Syndrome.

ABSTRACT: Antiphospholipid syndrome is an autoimmune disease characterized by the presence of circulating antiphospholipid antibodies (aPL) that promote thrombosis, pregnancy complications and cardiovascular diseases. Alterations in the function of vascular cells induced by aPL underlie these outcomes. This review will discuss recent findings that indicate a novel mechanism by which aPL antagonize endothelial cell production of nitric oxide and thereby promote thrombosis.

SUBMITTER: Mineo C

PROVIDER: S-EPMC3389810 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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New Insights into the Molecular Basis of the Antiphospholipid Syndrome.

Mineo Chieko C Shaul Philip W PW

Drug discovery today. Disease mechanisms 20110101 1-2

Antiphospholipid syndrome is an autoimmune disease characterized by the presence of circulating antiphospholipid antibodies (aPL) that promote thrombosis, pregnancy complications and cardiovascular diseases. Alterations in the function of vascular cells induced by aPL underlie these outcomes. This review will discuss recent findings that indicate a novel mechanism by which aPL antagonize endothelial cell production of nitric oxide and thereby promote thrombosis. ...[more]

PMID: 22773925

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Project description:BACKGROUND: Barth syndrome (BS) is an X-linked infantile-onset cardioskeletal disease characterized by cardiomyopathy, hypotonia, growth delay, neutropenia and 3-methylglutaconic aciduria. It is caused by mutations in the TAZ gene encoding tafazzin, a protein involved in the metabolism of cardiolipin, a mitochondrial-specific phospholipid involved in mitochondrial energy production. METHODS: Clinical, biochemical and molecular characterization of a group of six male patients suspected of having BS. Three patients presented early with severe metabolic decompensation including respiratory distress, oxygen desaturation and cardiomyopathy and died within the first year of life. The remaining three patients had cardiomyopathy, hypotonia and growth delay and are still alive. Cardiomyopathy was detected during pregnancy through a routine check-up in one patient. All patients exhibited 3-methylglutaconic aciduria and neutropenia, when tested and five of them also had lactic acidosis. RESULTS: We confirmed the diagnosis of BS with sequence analysis of the TAZ gene, and found five new mutations, c.641A>G p.His214Arg, c.284dupG (p.Thr96Aspfs*37), c.678_691del14 (p.Tyr227Trpfs*79), g.8009_16445del8437 and g.[9777_9814del38; 9911-?_14402del] and the known nonsense mutation c.367C>T (p.Arg123Term). The two gross rearrangements ablated TAZ exons 6 to 11 and probably originated by non-allelic homologous recombination and by Serial Replication Slippage (SRS), respectively. The identification of the breakpoints boundaries of the gross deletions allowed the direct detection of heterozygosity in carrier females. CONCLUSIONS: Lactic acidosis associated with 3-methylglutaconic aciduria is highly suggestive of BS, whilst the severity of the metabolic decompensation at disease onset should be considered for prognostic purposes. Mutation analysis of the TAZ gene is necessary for confirming the clinical and biochemical diagnosis in probands in order to identify heterozygous carriers and supporting prenatal diagnosis and genetic counseling.

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New Insights into the Molecular Basis of the Antiphospholipid Syndrome.

Publications

New Insights into the Molecular Basis of the Antiphospholipid Syndrome.

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