Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy
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DOI：
10.3109/13506129909007341
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发表时间：
1999-12-01
期刊：
影响因子：
--
通讯作者：
Ikeda, S
中科院分区：
文献类型：
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作者：
Tachibana, N;Tokuda, T;Ikeda, S
采用基质辅助激光解吸电离/飞行时间质谱（MALDI/TOF）系统检测6例家族性淀粉样多发性神经病（FAP）患者血清TTR分子中的甲状腺素运载蛋白（TTR）变体。这种简单而快速的方法显示了来自这些患者的TTR相关免疫沉淀物的质谱的六个不同患者，并且在每个患者中，清楚地识别的特征性双峰形离子峰由正常和变体TTR组成，除了彼此之间具有质量差异的峰之外。DNA测序证实，TTR变异体的氨基酸序列分别为ATTR Val 30 Leu、A TTR Phe 33瓦尔、ATTR Asp 38 Ala、ATTR Ser 50 Arg、ATTR Ala 97 Gly和ATTR Ala 97 Ser。TTR Asp 38 Ala和ATTR Ala 97 Ser是导致FAP发展的TTR的先前未知变体。1例中国FAP患者中发现ATTR Phe 33瓦尔，1例台湾FAP患者中发现ATTR Ala 97 Ser。采用免疫沉淀和MALDI/TOF MS系统进行血清分析，可为研究不同类型TTR变异的FAP患者提供有用的信息。
A matrix-assisted laser desorption ionization/time-of-flight (MALDI/TOF) mass spectrometry (MS) system was used to detect variant transthyretin (TTR) in immunoprecipitated serum TTR molecules obtained from 6 patients with familial amyloid polyneuropathy (FAP) who were already proven not to have ATTR Val30Met. This simple and quick method showed six different patients of mass spectra of TTR-related immunoprecipitates from these patients, and in each patient the clearly identified characteristic doublet-shaped ion peaks consisted of normal and variant TTR apart from each other peak with a mass difference between them. DNA sequencing confirmed that the patterns of variant TTR corresponded respectively to ATTR Val30Leu, A TTR Phe33 Val, ATTR Asp38Ala, ATTR Ser50Arg, ATTR Ala97Gly and ATTR Ala97Ser. A TTR Asp38Ala and ATTR Ala97Ser are previously unknown variants of TTR leading to the development of FAP. ATTR Phe33 Val was found in a Chinese FAP patient and ATTR Ala97Ser in a Taiwanese. Serum analysis using immunoprecipitation and MALDI/TOF MS system can provide useful information when investigating FAP patients with diverse types of variant TTR.