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T‐cell receptor V β gene usage in CSF lymphocytes in X‐linked adrenoleukodystrophy
Author(s) -
Picard Fabienne,
Guidoux Sylvie,
Martin Thierry,
Aubourg Patrick,
Pasquali JeanLouis
Publication year - 2005
Publication title -
journal of molecular recognition
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.401
H-Index - 79
eISSN - 1099-1352
pISSN - 0952-3499
DOI - 10.1002/jmr.727
Subject(s) - adrenoleukodystrophy , t cell receptor , phenotype , gene , biology , complementary dna , polymerase chain reaction , demyelinating disease , receptor , t cell , cell , microbiology and biotechnology , immunology , peroxisome , genetics , immune system , multiple sclerosis
X‐linked adrenoleukodystrophy (ALD) is a peroxisomal disorder with impaired very‐long‐chain fatty acid (VLCFA) metabolism that produces a neurological disease with significant variability of clinical phenotypes even within kindred. The two most common forms are the cerebral form (CALD) with an important inflammatory reaction at the active edge of demyelinating lesions, resembling some aspects of multiple sclerosis pathology, and adrenomyeloneuropathy (AMN), which involves the spinal cord and in which the inflammatory reaction is mild or absent. One hypothesis is that the phenotypic variability is related to T cell‐mediated immune mechanisms playing a primary role in the demyelinating pathogenic process of CALD. The present study aims to test the hypothesis that CSF of patients with the CALD form contains highly restricted T cell populations. The variable regions of the T cell receptor β chains (TCR V β ) were studied in CSF from 29 ALD patients with different phenotypes. RNA was extracted and cDNA synthesized from CSF lymphocytes; TCR V β gene segments were amplified from the cDNA by polymerase chain reaction (PCR) using 20 family‐specific primers. PCR products were analyzed by Southern blot. Some amplified V β products were sequenced. The majority of ALD patients (21/29), whatever their phenotype, exhibited oligoclonal T cell expansion. However the overexpression of some TCR V β families was heterogeneous among the different patients without any preponderance of specific V β families or any clustering according to clinical phenotype. In particular a dominant TCR V β utilization was not found in patients with CALD. Copyright © 2004 John Wiley & Sons, Ltd.