X-linked Adrenoleukodystrophy

X-linked Adrenoleukodystrophy

Stephane Savary, Doriane Trompier
ISBN: 9781615045549 | PDF ISBN: 9781615045556
Copyright © 2013 | 134 Pages | Publication Date: 03/01/2013

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X-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and the most frequent peroxisomal disorder, with an estimated incidence of 1:17,000. This complex neurodegenerative disorder is characterized by a huge clinical variability both in the age of onset and in symptoms. The two main forms are the childhood cerebral ALD (ccALD) characterized by inflammatory demyelination of the central nervous system, and the adult form called adrenomyeloneuropathy (AMN), characterized by a non-inflammatory slowly progressive demyelination affecting spinal cord and peripheral nerves. Adrenal insufficiency is usually associated with the nervous symptoms, X-ALD being the main cause of Addison's disease. The main biochemical defect is the accumulation of very-long-chain fatty acids (VLCFA, fatty acids with a chain length of more than 22 carbon atoms), particularly in the cholesterol ester fraction of the adrenal gland and brain white matter. X-ALD is associated with mutations in the ABCD1 gene, which encodes for a peroxisomal ATPBinding Cassette (ABC) transporter predicted to allow VLCFA-CoA to enter into the peroxisome for their B-oxidation. In spite of animal models, the physiopathogenesis of the disease remains poorly understood. However, several therapeutic strategies have been investigated. Among them, allogeneic bone marrow transplantation has proven effective and, more recently, the first gene therapy trial ended with a resounding success.

Table of Contents

Historical Introduction
Clinical Description
The ABCD1 Gene: Cloning, Evolution, Expression, Mutations, Function
Therapeutic Strategies
Internet Resources
Author Biographies

About the Author(s)

Stephane Savary, Laboratory Bio-PeroxIL, University of Bourgogne, France
Born in 1970, Stephane Savary came to the Faculty of Sciences of Marseille Luminy (France) in 1988 to pursue graduate studies in biochemistry and immunology. In 1992, he joined the laboratory of Dr. G. Chimini in the Center of Immunology of Marseille Luminy as a Master student in Immunology. He participated in the cloning and characterization of several novel members of the ABC family in mice (Abca1, Abcb7, Abcd2, Abcg1) and obtained a PhD in Immunology in June 1996. He then joined the University of Tours (France) as an assistant professor in Molecular Biology, joining the laboratory of Pr. G. Periquet in the Research Institute of Insect Biology to work with Dr. J.-M. Drezen on the molecular symbiosis between an endoparasitoid wasp Cotesia congregata and a polydnavirus. In 1998, he was recruited as an associate professor at the University of Burgundy, where he teaches biochemistry and molecular biology at the Universitary Institute of Technology of Dijon. He joined the team of Pr. M. Bugaut to work on the transcriptional regulation of the Abcd2 gene and therapeutic strategies in the context of X-ALD. In 2005, he became head of the group working on peroxisomal ABC transporters shifting some work on ABCD2 toward structure-function studies. He was promoted to Professor of the University of Burgundy in September 2012 and kept on working on peroxisomal ABC transporters in the laboratory Bio-PeroxIL.

Doriane Trompier, Laboratory Bio-PeroxIL, University of Bourgogne, France
Doriane Trompier is currently an Associate Professor of biochemistry and cell biology at the University of Burgundy (Dijon, France). Her doctoral research, performed in France (Institute of Biology and Chemistry of Proteins, Lyon) and in the USA (Mayo Clinic Scottsdale), focused on ABC transporters (ABCC1 and ABCB1) involved in multidrug resistance of cancer cells and received her PhD from Claude Bernard University (Lyon, France) in 2003. Then she worked mainly on reverse cholesterol transport mediated by ABCA1 as a post-doctoral fellow granted by the French Atherosclerosis Society in the Center of Immunology of Marseille Luminy. Since 2007, Doriane Trompier's current research interests focused on peroxisomal ABC transporters, including ABCD1, the ABC transporter deficient in X-linked adrenoleukodystrophy.

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