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13 results

Methodologies for Metabolomics
  • Experimental Strategies and Techniques
  • Edited by Norbert W. Lutz, Jonathan V. Sweedler, Ron A. Wevers
  • Published online:
    05 January 2013
    Print publication:
    21 January 2013
  • Metabolomics, the global characterisation of the small molecule complement involved in metabolism, has evolved into a powerful suite of approaches for understanding the global physiological and pathological processes occurring in biological organisms. The diversity of metabolites, the wide range of metabolic pathways and their divergent biological contexts require a range of methodological strategies and techniques. Methodologies for Metabolomics provides a comprehensive description of the newest methodological approaches in metabolomic research. The most important technologies used to identify and quantify metabolites, including nuclear magnetic resonance and mass spectrometry, are highlighted. The integration of these techniques with classical biological methods is also addressed. Furthermore, the book presents statistical and chemometric methods for evaluation of the resultant data. The broad spectrum of topics includes a vast variety of organisms, samples and diseases, ranging from in vivo metabolomics in humans and animals to in vitro analysis of tissue samples, cultured cells and biofluids.

  • 30 - Cerebrotendinous xanthomatosis

    • By Aad Verrips, Departments of Neurology/Pediatric Neurology, University Medical Center Nijmegen, The Netherlands, Johannes R. M. Cruysberg, Departments of Ophthalmology, University Medical Center Nijmegen, The Netherlands, Ron A. Wevers, Laboratory of Pediatrics and Neurology, University Medical Center Nijmegen, The Netherlands
  • Edited by E. Steve Roach, Wake Forest University, North Carolina, Van S. Miller, University of Texas Southwestern Medical Center, Dallas
  • Book:
    Neurocutaneous Disorders
    Published online:
    31 July 2009
    Print publication:
    08 January 2004, pp 248-257

  • Summary

    Introduction

    In 1937, Van Bogaert et al., (1937a) described a patient with cerebrotendinous xanthomatosis (CTX) and made a detailed follow-up of this man. After the patient died at the age of 40 years, a thorough postmortem study was performed. This clinicopathologic description is the most detailed ever reported for CTX. Within 3 years, two additional patients were described (Van Bogaert et al., 1937b; Epstein, 1940).

    In 1968 Menkes et al. (1968) reported that there were large amounts of cholestanol in the brain of a CTX patient. Three years later, Salen (1971) found very low concentrations of chenodeoxycholic acid (CDCA) in the bile of CTX patients. In 1974 Setoguchi et al. (1974) reported a defect in bile acid synthesis. Subsequently, Salen et al. (1975) showed that CDCA therapy inhibits the synthesis of cholesterol and cholestanol in CTX patients. The deficiency of the enzyme 27-sterol hydroxylase (CYP 27) as the underlying defect in CTX, an enzyme essential in bile acid synthesis, was described by Oftebro et al. (1980). Berginer et al. (1984) confirmed the beneficial effect of CDCA as long-term therapy for CTX patients. Therapeutic β-HMG CoA reductase inhibitors were introduced, but the results were not conclusive regarding the effect of these drugs (Kuriyama et al., 1994).

    Cali and Russell (1991) elucidated the sequence of cDNA of the human CYP 27 enzyme and described the first two mutations (Cali et al., 1991).