NA17819
DNA from Fibroblast
Description:
ADRENOLEUKODYSTROPHY; ALD
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
1.5 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
ABCD1 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
; ADRENOMYELONEUROPATHY |
| Identified Mutation |
deletion of exons 8-10 |
| 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. |
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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