Tasaki Masayoshi, Ueda Mitsuharu, Obayashi Konen, Motokawa Hiroaki, Kinoshita Yumiko, Suenaga Genki, Yanagisawa Akihiro, Toyoshima Risa, Misumi Yohei, Masuda Teruaki, Yamashita Taro, Ando Yukio
Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan Department of Morphological and Physiological Sciences, Graduate School of Health Sciences, Kumamoto University, Kumamoto, Japan.
Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan
Ann Clin Biochem. 2016 Jul;53(Pt 4):508-10. doi: 10.1177/0004563215605541. Epub 2015 Sep 4.
Familial amyloid polyneuropathy is caused by a variant transthyretin, which is a serum protein secreted by the liver. We previously reported that mutated transthyretins were detected in serum samples by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry (SELDI-TOF MS). The aim of this study was to evaluate the clinical usefulness of SELDI-TOF MS for diagnosis of transthyretin-related amyloidosis.
We used 106 serum samples obtained from patients who were clinically suspected of having amyloidosis between February 2011 and April 2014. SELDI-TOF MS allowed analysis for transthyretin via a 3-h one-step procedure.
Of the 106 patients, 51 are transthyretin amyloidosis. Mutated transthyretins were detected in serum samples from 30 of 51 patients with transthyretin amyloidosis. The results of genetic analysis showed that all of those patients had mutations in the transthyretin gene. For all 18 patients with senile systemic amyloidosis of 51 patients with transthyretin amyloidosis, SELDI-TOF MS detected only wild-type transthyretin peaks, not mutated transthyretin peaks.
SELDI-TOF MS is a clinically useful tool for diagnosis of transthyretin-related amyloidosis.
家族性淀粉样多神经病由一种变异的转甲状腺素蛋白引起，该蛋白是肝脏分泌的一种血清蛋白。我们之前报道过通过表面增强激光解吸/电离飞行时间质谱（SELDI-TOF MS）在血清样本中检测到突变的转甲状腺素蛋白。本研究的目的是评估SELDI-TOF MS在诊断转甲状腺素蛋白相关淀粉样变性中的临床实用性。
我们使用了2011年2月至2014年4月期间从临床怀疑患有淀粉样变性的患者中获取的106份血清样本。SELDI-TOF MS可通过3小时的一步法对转甲状腺素蛋白进行分析。
106例患者中，51例为转甲状腺素蛋白淀粉样变性。在51例转甲状腺素蛋白淀粉样变性患者的血清样本中，有30例检测到突变的转甲状腺素蛋白。基因分析结果显示，所有这些患者的转甲状腺素蛋白基因均有突变。在51例转甲状腺素蛋白淀粉样变性患者中的18例老年系统性淀粉样变性患者中，SELDI-TOF MS仅检测到野生型转甲状腺素蛋白峰，未检测到突变的转甲状腺素蛋白峰。
SELDI-TOF MS是诊断转甲状腺素蛋白相关淀粉样变性的一种临床有用工具。
