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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F12%3A13573%21RIV13-MZ0-00064165
rdf:type
n11:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1371/journal.pone.0052635
dcterms:description
X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disease associated with mutations in the ABCD1 gene that encodes an ATP-binding cassette transporter protein, ALDP. The disease is characterized by increased concentrations of very long-chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues, due to a defect in peroxisomal VLCFA beta-oxidation. In the present study, we analyzed 10 male patients and 17 female carriers from 10 unrelated pedigrees with X-ALD from Argentina. By sequencing the ABCD1 we detected 9 different mutations, 8 of which were novel. These new mutations were verified by a combination of methods that included both functional (western blot and peroxisomal VLCFA beta-oxidation) and bioinformatics analysis. The spectrum of novel mutations consists of 3 frameshift (p.Ser284fs*16, p.Glu380Argfs*21 and p.Thr254Argfs*82); a deletion (p.Ser572_Asp575del); a splicing mutation (c.1081+5G>C) and 3 missense mutations (p.Ala341Asp, p.His420Pro and p.Tyr547Cys). In one patient 2 changes were found: a known missense (p.His669Arg) and an unpublished amino acid substitution (p.Ala19Ser). In vitro studies suggest that p.Ala19Ser is a polymorphism. Moreover, we identified two novel intronic polymorphisms and two amino acid polymorphisms. In conclusion, this study extends the spectrum of mutation in X-ALD and facilitates the identification of heterozygous females. X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disease associated with mutations in the ABCD1 gene that encodes an ATP-binding cassette transporter protein, ALDP. The disease is characterized by increased concentrations of very long-chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues, due to a defect in peroxisomal VLCFA beta-oxidation. In the present study, we analyzed 10 male patients and 17 female carriers from 10 unrelated pedigrees with X-ALD from Argentina. By sequencing the ABCD1 we detected 9 different mutations, 8 of which were novel. These new mutations were verified by a combination of methods that included both functional (western blot and peroxisomal VLCFA beta-oxidation) and bioinformatics analysis. The spectrum of novel mutations consists of 3 frameshift (p.Ser284fs*16, p.Glu380Argfs*21 and p.Thr254Argfs*82); a deletion (p.Ser572_Asp575del); a splicing mutation (c.1081+5G>C) and 3 missense mutations (p.Ala341Asp, p.His420Pro and p.Tyr547Cys). In one patient 2 changes were found: a known missense (p.His669Arg) and an unpublished amino acid substitution (p.Ala19Ser). In vitro studies suggest that p.Ala19Ser is a polymorphism. Moreover, we identified two novel intronic polymorphisms and two amino acid polymorphisms. In conclusion, this study extends the spectrum of mutation in X-ALD and facilitates the identification of heterozygous females.
dcterms:title
X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients
skos:prefLabel
X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients
skos:notation
RIV/00064165:_____/12:13573!RIV13-MZ0-00064165
n11:predkladatel
n12:ico%3A00064165
n3:aktivita
n18:Z n18:I
n3:aktivity
I, Z(MSM0021620806)
n3:cisloPeriodika
12
n3:dodaniDat
n19:2013
n3:domaciTvurceVysledku
n15:2876361
n3:druhVysledku
n4:J
n3:duvernostUdaju
n16:S
n3:entitaPredkladatele
n17:predkladatel
n3:idSjednocenehoVysledku
181167
n3:idVysledku
RIV/00064165:_____/12:13573
n3:jazykVysledku
n7:eng
n3:klicovaSlova
CHAIN FATTY-ACIDS; SKIN FIBROBLASTS; MUTATIONS; PROTEIN; PLASMA; TRANSPORTERS; OXIDATION; SEQUENCE; PMP70; ALDP
n3:klicoveSlovo
n5:SKIN%20FIBROBLASTS n5:SEQUENCE n5:TRANSPORTERS n5:CHAIN%20FATTY-ACIDS n5:ALDP n5:OXIDATION n5:PLASMA n5:PROTEIN n5:PMP70 n5:MUTATIONS
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[4ABE2B7891CC]
n3:nazevZdroje
PLoS One
n3:obor
n9:EB
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
9
n3:rokUplatneniVysledku
n19:2012
n3:svazekPeriodika
7
n3:tvurceVysledku
Myšková, Helena de Ramirez, A.M.O. Dvořáková, Lenka de Kremer, R. D. Monti, M. R. Amorosi, A. C. Argarana, C. E. Kemp, S. Morita, M.
n3:wos
000313872600021
n3:zamer
n13:MSM0021620806
s:issn
1932-6203
s:numberOfPages
8