Adrenoleukodystrophy

Elevated C26 fatty acid in cultured skin fibroblasts

H. W. Moser, A. B. Moser, N. Kawamura, J. Murphy, K. Suzuki, H. Schaumburg, Y. Kishimoto

Research output: Contribution to journalArticle

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Abstract

Because postmortem brain and adrenal tissue from patients with adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN) have been shown to contain abnormally large amounts of very long chain fatty acids (C 24 through C 30), we searched for such an abnormality in cultured skin fibroblasts. Total lipid extracts of cultured fibroblasts were hydrolyzed, their fatty acid composition was determined by gas-liquid chromatography, and the ratio of C 26 to C 22 fatty acids was calculated. In 29 control cell lines this ratio was 0.064±0.019. In 5 patients with autopsy-proved ALD the ratio was 0.778±0.139; in 6 patients with clinical features typical of ALD it was 0.764±0.092; in two patients with autopsy-proved AMN, 0.890±0.02; and in 2 patients with clinical features typical of AMN, 0.560±0.079. Abnormal ratios were observed in 4 of 5 ALD heterozygotes. In 3 patients in whom the diagnosis of ALD was suspected, an abnormal ratio (0.860) was observed in 1 and normal ratios (0.06 and 0.074) in the 2 others.

Original languageEnglish (US)
Pages (from-to)542-549
Number of pages8
JournalAnnals of Neurology
Volume7
Issue number6
DOIs
StatePublished - 1980

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Adrenoleukodystrophy
Fatty Acids
Fibroblasts
Skin
Autopsy
Heterozygote
Gas Chromatography
Lipids
Cell Line

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Moser, H. W., Moser, A. B., Kawamura, N., Murphy, J., Suzuki, K., Schaumburg, H., & Kishimoto, Y. (1980). Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts. Annals of Neurology, 7(6), 542-549. https://doi.org/10.1002/ana.410070607

Adrenoleukodystrophy : Elevated C26 fatty acid in cultured skin fibroblasts. / Moser, H. W.; Moser, A. B.; Kawamura, N.; Murphy, J.; Suzuki, K.; Schaumburg, H.; Kishimoto, Y.

In: Annals of Neurology, Vol. 7, No. 6, 1980, p. 542-549.

Research output: Contribution to journalArticle

Moser, HW, Moser, AB, Kawamura, N, Murphy, J, Suzuki, K, Schaumburg, H & Kishimoto, Y 1980, 'Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts', Annals of Neurology, vol. 7, no. 6, pp. 542-549. https://doi.org/10.1002/ana.410070607
Moser HW, Moser AB, Kawamura N, Murphy J, Suzuki K, Schaumburg H et al. Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts. Annals of Neurology. 1980;7(6):542-549. https://doi.org/10.1002/ana.410070607
Moser, H. W. ; Moser, A. B. ; Kawamura, N. ; Murphy, J. ; Suzuki, K. ; Schaumburg, H. ; Kishimoto, Y. / Adrenoleukodystrophy : Elevated C26 fatty acid in cultured skin fibroblasts. In: Annals of Neurology. 1980 ; Vol. 7, No. 6. pp. 542-549.
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