Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation

Takekazu Ohi, Shinji Takechi, Naoya Itokazu, Kazutaka Shiomi, Seiichro Sugimoto, Yasunobu Antoku, Koji Kato, Tohru Sugimoto, Tatsuo Nakayama, Shigeru Matsukura

研究成果: Contribution to journalArticle査読

4 被引用数 (Scopus)

抄録

We identified two novel missense mutations in exon 1 of adrenoleukodystrophy (ALD) gene in two unrelated Japanese families. The first, G(874)C transition results in Arg(163)Pro substitution in the cytoplasmic domain of the ALD protein in adrenomyeloneuropathy family. The second, C(679)G results in Ser(98)Trp substitution in the first transmembrane loop in childhood onset cerebral ALD family. Both mutations cause the substitution of polar amino acid (arginine and serine) with non-polar amino acid (proline and tryptophan). Bone marrow transplantation (BMT) from his non-affected his younger sister was performed on a boy with childhood onset cerebral ALD who showed neurological deficit and brain MRI abnormalities. We evaluated the effect of BMT over a 6-year period in terms of neurological deficit, the level of very-long-chain fatty acids (VLCFA) in plasma and fibroblasts, and brain MRI. After BMT, patient's peripheral white blood cells were replaced by donor's XX ones carrying a normal ALD gene confirmed by in situ hybridization using satellite DNA of the centromere of X and Y chromosomes as probes and the level of VLCFA in lymphocytes was within normal limit. However, his neurological state progressively deteriorated. BMT was not beneficial to him. (C) Elsevier Science B.V.

本文言語英語
ページ(範囲)131-138
ページ数8
ジャーナルJournal of the Neurological Sciences
177
2
DOI
出版ステータス出版済み - 8 15 2000
外部発表はい

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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