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NA17819 DNA from Fibroblast

Description:

ADRENOLEUKODYSTROPHY; ALD
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1

Affected:

Yes

Sex:

Male

Age:

32 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Steroid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; skin biopsy taken from the forearm; presented with adrenal insufficiency at age 24; slow decline in motor function with spastic weakness in the lower limbs associated with loss of vibration sense; MRI of the brain at age 30 was normal; began using a cane at age 28 and was wheel chair bound by age 30; clinical course characteristic of adrenomyeloneuropathy; mother and maternal grandmother are carriers (not in repository); Southern blot analysis indicated that the donor subject has a deletion of exons 8-10 in the ATP-binding cassette, subfamily D, member 1 (ABCD1) gene.

Characterizations

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PDL at Freeze 1.5
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene ABCD1
Chromosomal Location Xq28
Allelic Variant 1 ; ADRENOMYELONEUROPATHY
Identified Mutation deletion of exons 8-10

Phenotypic Data

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Remarks Clinically affected; skin biopsy taken from the forearm; presented with adrenal insufficiency at age 24; slow decline in motor function with spastic weakness in the lower limbs associated with loss of vibration sense; MRI of the brain at age 30 was normal; began using a cane at age 28 and was wheel chair bound by age 30; clinical course characteristic of adrenomyeloneuropathy; mother and maternal grandmother are carriers (not in repository); Southern blot analysis indicated that the donor subject has a deletion of exons 8-10 in the ATP-binding cassette, subfamily D, member 1 (ABCD1) gene.

Publications

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Monternier PA, Singh J, Parasar P, Theurey P, DeWitt S, Jacques V, Klett E, Kaur N, Nagaraja TN, Moller DE, Hallakou-Bozec S, Therapeutic potential of deuterium-stabilized (R)-pioglitazone-PXL065-for X-linked adrenoleukodystrophy Journal of inherited metabolic disease: 2022
PubMed ID: 35510808
 
Terluk MR, Tieu J, Sahasrabudhe SA, Moser A, Watkins PA, Raymond GV, Kartha RV, Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics19:1007-1017 2022
PubMed ID: 35378685
 
Come JH, Senter TJ, Clark MP, Court JJ, Gale-Day Z, Gu W, Krueger E, Liang J, Morris M, Nanthakumar S, O'Dowd H, Maltais F, Iyer G, Andreassi J, Boucher C, Considine T, Moody CS, Taylor W, Mohanty AK, Huang Y, Zuccola H, Coll J, Bonanno KC, Gagnon KJ, Gan L, Lu F, Gao H, Chakilam A, Engtrakul J, Song B, Crawford D, Doyle E, Kramer T, Vought B, Phillips J, Kemper R, Sanders M, Swett R, Furey B, Winquist R, Bunnage ME, Jackson KL, Charifson PS, Magavi SS, Discovery and Optimization of Pyrazole Amides as Inhibitors of ELOVL1 Journal of medicinal chemistry64:17753-17776 2021
PubMed ID: 34748351
 
Doria M, Nury T, Delmas D, Moreau T, Lizard G, Vejux A, Protective function of autophagy during VLCFA-induced cytotoxicity in a neurodegenerative cell model Free radical biology & medicine137:46-58 2019
PubMed ID: 31004752
 
Miyamoto T, Hosoba K, Itabashi T, Iwane AH, Akutsu SN, Ochiai H, Saito Y, Yamamoto T, Matsuura S, Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome The EMBO journal137:e103499 2019
PubMed ID: 32368833
 
Lee DK, Long NP, Jung J, Kim TJ, Na E, Kang YP, Kwon SW, Jang J, Integrative lipidomic and transcriptomic analysis of X-linked adrenoleukodystrophy reveals distinct lipidome signatures between adrenomyeloneuropathy and childhood cerebral adrenoleukodystrophy Biochemical and biophysical research communications137:e103499 2018
PubMed ID: 30509496
 
Gondcaille C, Genin EC, Lopez TE, Dias AM, Geillon F, Andreoletti P, Cherkaoui-Malki M, Nury T, Lizard G, Weinhofer I, Berger J, Kase ET, Trompier D, Savary S., LXR antagonists induce ABCD2 expression. Biochim Biophys Acta.pii:S1388-1981 2013
PubMed ID: 24239766

External Links

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dbSNP dbSNP ID: 16445
Gene Cards ABCD1
ALD
Gene Ontology GO:0005215 transporter activity
GO:0005524 ATP binding
GO:0005777 peroxisome
GO:0005779 integral to peroxisomal membrane
GO:0006810 transport
GO:0007031 peroxisome organization and biogenesis
GO:0015919 peroxisomal membrane transport
GO:0016021 integral to membrane
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
NCBI Gene Gene ID:215
NCBI GTR 300100 ADRENOLEUKODYSTROPHY; ALD
300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1
OMIM 300100 ADRENOLEUKODYSTROPHY; ALD
300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1
Omim Description ADDISON DISEASE AND CEREBRAL SCLEROSIS
  ADRENOLEUKODYSTROPHY; ALD
  ADRENOMYELONEUROPATHY; AMN
  BRONZE SCHILDER'S DISEASE
  MELANODERMIC LEUKODYSTROPHYADRENOLEUKODYSTROPHY PROTEIN, INCLUDED; ALDP, INCLUDED
  SIEMERLING-CREUTZFELDT DISEASE
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U.S. Academic/Non-profit/Government:
$139.00USD
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