Late onset neurological phenotype of the X-ALD gene inactivation in mice
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Late onset neurological phenotype of the X-ALD gene inactivation in mice : a mouse model for adrenomyeloneuropathy. / Pujol, Aurora; Hindelang, Colette; Callizot, Noëlle; Bartsch, Udo; Schachner, Melitta; Mandel, Jean Louis.
in: HUM MOL GENET, Jahrgang 11, Nr. 5, 01.03.2002, S. 499-505.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Late onset neurological phenotype of the X-ALD gene inactivation in mice
T2 - a mouse model for adrenomyeloneuropathy
AU - Pujol, Aurora
AU - Hindelang, Colette
AU - Callizot, Noëlle
AU - Bartsch, Udo
AU - Schachner, Melitta
AU - Mandel, Jean Louis
PY - 2002/3/1
Y1 - 2002/3/1
N2 - Adrenomyeloneuropathy (AMN) and cerebral childhood adrenoleukodystrophy (CCALD) are the main phenotypic variants of an X-linked inherited metabolic disorder causing demyelination, X-linked adrenoleukodystrophy (X-ALD). It is caused by mutations in the ABCD1 (ALD) gene encoding a peroxisomal ABC transporter. Inactivation of the murine ALD gene does not lead to a detectable clinical phenotype in mice up to 6 months, and no cerebral pathology resembling the childhood form (CCALD) was observed. In this work, we show that older ALD-deficient mice exhibit an abnormal neurological and behavioral phenotype, starting at around 15 months. This is correlated with slower nerve conduction, and with myelin and axonal anomalies detectable in the spinal cord and sciatic nerve, but not in brain. The phenotype of ALD-deficient mice mimics features of human AMN, thus providing a model for investigating the pathogenesis of this disease.
AB - Adrenomyeloneuropathy (AMN) and cerebral childhood adrenoleukodystrophy (CCALD) are the main phenotypic variants of an X-linked inherited metabolic disorder causing demyelination, X-linked adrenoleukodystrophy (X-ALD). It is caused by mutations in the ABCD1 (ALD) gene encoding a peroxisomal ABC transporter. Inactivation of the murine ALD gene does not lead to a detectable clinical phenotype in mice up to 6 months, and no cerebral pathology resembling the childhood form (CCALD) was observed. In this work, we show that older ALD-deficient mice exhibit an abnormal neurological and behavioral phenotype, starting at around 15 months. This is correlated with slower nerve conduction, and with myelin and axonal anomalies detectable in the spinal cord and sciatic nerve, but not in brain. The phenotype of ALD-deficient mice mimics features of human AMN, thus providing a model for investigating the pathogenesis of this disease.
KW - ATP-Binding Cassette Transporters
KW - Adrenoleukodystrophy
KW - Age of Onset
KW - Animals
KW - Axons
KW - Behavior, Animal
KW - Chemokine CCL22
KW - Chemokines, CC
KW - Disease Models, Animal
KW - Gene Silencing
KW - Male
KW - Mice
KW - Mice, Knockout
KW - Mutation
KW - Myelin Sheath
KW - Neural Conduction
KW - Phenotype
KW - Sciatic Nerve
KW - Spinal Cord
KW - Comparative Study
KW - Journal Article
KW - Research Support, Non-U.S. Gov't
M3 - SCORING: Journal article
C2 - 11875044
VL - 11
SP - 499
EP - 505
JO - HUM MOL GENET
JF - HUM MOL GENET
SN - 0964-6906
IS - 5
ER -