Advances in Experimental Medicine and Biology 1299
Gérard Lizard Editor
Peroxisome Biology:
Experimental Models,
Peroxisomal Disorders
and Neurological
Diseases
,Advances in Experimental Medicine
and Biology
Volume 1299
Series Editors
Wim E. Crusio, Institut de Neurosciences Cognitives et Intégratives
d’Aquitaine, CNRS and University of Bordeaux, Pessac Cedex, France
Haidong Dong, Departments of Urology and Immunology, Mayo Clinic,
Rochester, MN, USA
Heinfried H. Radeke, Institute of Pharmacology & Toxicology, Clinic of the
Goethe University Frankfurt Main, Frankfurt am Main, Hessen, Germany
Nima Rezaei, Research Center for Immunodeficiencies, Children’s Medical
Center, Tehran University of Medical Sciences, Tehran, Iran
Junjie Xiao, Cardiac Regeneration and Ageing Lab, Institute of Cardiovascular
Sciences, School of Life Science, Shanghai University, Shanghai, China
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,Gérard Lizard
Editor
Peroxisome Biology:
Experimental Models,
Peroxisomal Disorders
and Neurological
Diseases
,Editor
Gérard Lizard
Team ‘Biochemistry of the Peroxisome, Inflammation and
Lipid Metabolism’ EA 7270/University of Bourgogne
Franche-Comté/Inserm, Dijon, France
ISSN 0065-2598 ISSN 2214-8019 (electronic)
Advances in Experimental Medicine and Biology
ISBN 978-3-030-60203-1 ISBN 978-3-030-60204-8 (eBook)
https://doi.org/10.1007/978-3-030-60204-8
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,This book is dedicated to my family (Sarab, Diane, Denis and
Garance) and to my collaborator Amira Z.: you are my
“lighthouses”.
I also thank my parents for having instilled in me the sense of
work, effort and perseverance without forgetting curiosity
and resourcefulness which are indispensable qualities in
research.
Louis Pasteur’s quote: “Le hasard ne favorise que les esprits
préparés”
,Preface
The discovery of the peroxisome as well as that of the lysosome is due to Prof.
Christian de Duve (1917–2013). This work earned him to share the Nobel
Prize for Medicine and Physiology in 1974 with Albert Claude and George
E. Palade. At present, the peroxisome is still a poorly known organelle, and it is
well established that peroxisomal alterations (absence of biogenesis or defi-
ciency in enzymes or peroxisomal transporters) due to genetic abnormalities
are capable of inducing diseases called peroxysomopathies, some of which can
be fatal. These peroxysomopathies are often associated with developmental
disorders and anomalies of the central or peripheral nervous system. Currently,
there are no drugs to treat these diseases, and for some of them, such as
X-linked adrenoleukodystrophy (X-ALD), only allogeneic bone marrow trans-
plantation can be effective and great hopes are currently pinned on gene
therapy. A better understanding of the peroxisome, its biogenesis, its activities
and its functions is therefore an important medical issue. Recently, several
studies have suggested that the peroxisome may also be involved in more
common neurodegenerative diseases such as Alzheimer’s disease and multiple
sclerosis. These results, which deserve confirmation, are in favour of the
involvement of peroxisomal dysfunction in neurodegeneration. As
neurodegeneration is often associated with oxidative stress which can generate
lipid peroxidation products, it has been shown that some of these products,
called oxysterols (formed by the auto-oxidation of cholesterol, by enzymatic
reactions or by both), induce cytotoxicity in nerve cells and lead to morpho-
logical and functional peroxisomal modifications. Today, as it is known that
peroxisomal dysfunction can favour oxidative stress and inflammation as well
as mitochondrial dysfunctions which are hallmarks of neurodegenerative
diseases, and that mitochondria and peroxisome are tightly connected
organelles, these arguments have reinforced the interest to study the peroxi-
some in neurodegenerative diseases other than peroxisomopathies. This book
by internationally renowned European, Canadian and Japanese researchers on
the biology and biochemistry of the peroxisome and its associated diseases is
divided into five parts: I—Biology and biochemistry of peroxisomes; II—
Peroxisomal diseases: biological characteristics and diagnosis; III—Potential
roles of peroxisomes in major neurodegenerative diseases; IV—Cell and
animal model systems; and V—Treatments of peroxisomal diseases.
vii
,viii Preface
This book provides information intended for a wide biomedical public as
well as for researchers wishing to acquire broad and recent knowledge on
peroxisome, the pathologies associated with it, their diagnoses, possible
treatments and treatment perspectives.
Dijon, France Gérard Lizard
,Contents
Part I Biology and Biochemistry of Peroxisomes
1 Peroxisome: Metabolic Functions and Biogenesis . . . . . . . . 3
Kanji Okumoto, Shigehiko Tamura, Masanori Honsho,
and Yukio Fujiki
2 Peroxisomal Dysfunction and Oxidative Stress in
Neurodegenerative Disease: A Bidirectional Crosstalk . . . . 19
Marc Fransen, Iulia Revenco, Hongli Li, Cláudio F. Costa,
Celien Lismont, and Paul P. Van Veldhoven
3 7-ketocholesterol- and 7ß-hydroxycholesterol-Induced
Peroxisomal Disorders in Glial, Microglial and Neuronal
Cells: Potential Role in Neurodegeneration . . . . . . . . . . . . 31
Thomas Nury, Aline Yammine, Franck Menetrier,
Amira Zarrouk, Anne Vejux, and Gérard Lizard
Part II Peroxisomal Diseases: Biological Characteristics
and Diagnosis
4 Peroxisome Biogenesis Disorders . . . . . . . . . . . . . . . . . . . . 45
Masanori Honsho, Kanji Okumoto, Shigehiko Tamura,
and Yukio Fujiki
5 Fatty Acid Oxidation in Peroxisomes: Enzymology,
Metabolic Crosstalk with Other Organelles and
Peroxisomal Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . 55
Ronald J. A. Wanders, Frédéric M. Vaz, Hans R. Waterham,
and Sacha Ferdinandusse
6 Zellweger Syndrome Disorders: From Severe Neonatal
Disease to Atypical Adult Presentation . . . . . . . . . . . . . . . . 71
David Cheillan
7 Heimler Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 81
S. Mechaussier, I. Perrault, H. Dollfus, A. Bloch-Zupan,
N. Loundon, L. Jonard, and S. Marlin
ix
, x Contents
Part III Potential Roles of Peroxisomes in Major
Neurodegenerative Diseases
8 Potential Involvement of Peroxisome in Multiple Sclerosis
and Alzheimer’s Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . 91
Amira Zarrouk, Thomas Nury, Hammam I. El Hajj,
Catherine Gondcaille, Pierre Andreoletti, Thibault Moreau,
Mustapha Cherkaoui-Malki, Johannes Berger,
Mohamed Hammami, Gérard Lizard, and Anne Vejux
9 Developmental and Degenerative Cerebellar Pathologies
in Peroxisomal β-Oxidation Deficiency . . . . . . . . . . . . . . . . 105
Stephanie De Munter and Myriam Baes
Part IV Cell and Animal Model Systems
10 A Mouse Model System to Study Peroxisomal Roles in
Neurodegeneration of Peroxisome Biogenesis Disorders . . . 119
Yuichi Abe, Shigehiko Tamura, Masanori Honsho,
and Yukio Fujiki
11 The Drosophila melanogaster as Genetic Model System to
Dissect the Mechanisms of Disease that Lead to
Neurodegeneration in Adrenoleukodystrophy . . . . . . . . . . 145
Margret H. Bülow, Brendon D. Parsons, and Francesca Di Cara
12 Human Peroxisomal 3-Ketoacyl-CoA Thiolase: Tissue
Expression and Metabolic Regulation . . . . . . . . . . . . . . . . 161
Norbert Latruffe
Part V Treatments of Peroxisomal Diseases
13 Biological Functions of Plasmalogens . . . . . . . . . . . . . . . . . 171
Md Shamim Hossain, Shiro Mawatari, and Takehiko Fujino
14 Therapeutic Efficacy of Plasmalogens for Alzheimer’s
Disease, Mild Cognitive Impairment, and Parkinson’s
Disease in Conjunction with a New Hypothesis for the
Etiology of Alzheimer’s Disease . . . . . . . . . . . . . . . . . . . . . 195
Takehiko Fujino, Md Shamim Hossain, and Shiro Mawatari
