演題概要

オーラルセッション

第2日 5月19日(木) 10:20~10:40 A会場(オービットホール)

臨床検査学的に応用可能な極長鎖脂肪酸をバイオマーカーとした副腎白質ジストロフィーの診断法の開発

(成育医療)
o真嶋隆一田中美砂坂井英里中島英規熊谷淳之小須賀基通奥山虎之

X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disorder characterized by an impaired beta-oxidation of very-long chain fatty acids in the peroxisomes. A couple of recent studies have suggested that 1-hexacosanoyl-2-hydroxy-sn-glycero-3-phosphocholine (Lyso-PC 26:0) can be a sensitive biomarker for X-ALD. Although approximately 10-fold increase in the concentration of Lyso-PC 26:0 in DBSs from X-ALD-affected individuals were reported, whether the carriers might be distinguished from the healthy controls remained unclear. To address this question, we have validated the previously developed LC-MS/MS-based analytical procedures using QC DBSs. We found that the recovery of Lyso-PC 26:0 from the QC DBSs was 73.6 ± 0.3 % when 2 μM of Lyso-PC 26:0 was spiked into the blood. Based on this result, the amounts of Lyso-PC 26:0 in the controls and ALD-affected individuals were 0.090 ± 0.004 (n = 11) and 1.078 ± 0.217 (n = 4) pmol/DBS, respectively. Interestingly, the concentration of Lyso-PC 26:0 in the carriers were 0.548 ± 0.095 pmol/DBS (n = 3), indicating that the carriers and the healthy controls can be distinguished. These results suggest that LC-MS/MS-based method can be used for the detection of asymptomatic carriers and X-ALD-affected subjects in the newborn screening.