Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation
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Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation. / Maier, Esther M; Kammerer, Stefan; Muntau, Ania C; Wichers, Maria; Braun, Andreas; Roscher, Adelbert A.
in: ANN NEUROL, Jahrgang 52, Nr. 5, 11.2002, S. 683-8.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation
AU - Maier, Esther M
AU - Kammerer, Stefan
AU - Muntau, Ania C
AU - Wichers, Maria
AU - Braun, Andreas
AU - Roscher, Adelbert A
PY - 2002/11
Y1 - 2002/11
N2 - Skewing of X inactivation may contribute to the manifestation of symptoms in adrenoleukodystrophy carriers. We observed highly skewed X inactivation in 32% of 22 symptomatic and asymptomatic carriers but not in 7 related and 35 unrelated controls. Skewing of X inactivation correlated with clinical neurological scores but not with the extent of very long-chain fatty acid accumulation. Transcript analysis in cultured fibroblasts revealed that skewing could occur both in favor of the mutant and the wild-type allele. Adrenoleukodystrophy carriers are more susceptible to develop skewing of X inactivation in favor of the mutant allele being associated with the manifestation of symptoms.
AB - Skewing of X inactivation may contribute to the manifestation of symptoms in adrenoleukodystrophy carriers. We observed highly skewed X inactivation in 32% of 22 symptomatic and asymptomatic carriers but not in 7 related and 35 unrelated controls. Skewing of X inactivation correlated with clinical neurological scores but not with the extent of very long-chain fatty acid accumulation. Transcript analysis in cultured fibroblasts revealed that skewing could occur both in favor of the mutant and the wild-type allele. Adrenoleukodystrophy carriers are more susceptible to develop skewing of X inactivation in favor of the mutant allele being associated with the manifestation of symptoms.
KW - Adolescent
KW - Adrenoleukodystrophy/blood
KW - Adult
KW - Child, Preschool
KW - Fatty Acids/blood
KW - Female
KW - Fibroblasts/physiology
KW - Heterozygote
KW - Humans
KW - Middle Aged
KW - Reference Values
KW - Sex Chromosome Aberrations
KW - Transcription, Genetic
KW - X Chromosome
U2 - 10.1002/ana.10376
DO - 10.1002/ana.10376
M3 - SCORING: Journal article
C2 - 12402273
VL - 52
SP - 683
EP - 688
JO - ANN NEUROL
JF - ANN NEUROL
SN - 0364-5134
IS - 5
ER -