著者

Katsuya Morito Ryota Shimizu Hanif Ali Akina Shimada Tohru Miyazaki Naoko Takahashi M. Motiur Rahman Kazuki Tsuji Nobuyuki Shimozawa Michiyasu Nakao Shigeki Sano Momoyo Azuma Meera Nanjundan Kentaro Kogure Tamotsu Tanaka

出版者

The University of Tokushima Faculty of Medicine

雑誌

The Journal of Medical Investigation (ISSN:13431420)

巻号頁・発行日

vol.70, no.3.4, pp.403-410, 2023 (Released:2023-11-09)

参考文献数

46

被引用文献数

1

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X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder associated with peroxisomal dysfunction. Patients with this rare disease accumulate very long-chain fatty acids (VLCFAs) in their bodies because of impairment of peroxisomal VLCFA ?-oxidation. Several clinical types of X-ALD, ranging from mild (axonopathy in the spinal cord) to severe (cerebral demyelination), are known. However, the molecular basis for this phenotypic variability remains largely unknown. In this study, we determined plasma ceramide (CER) profile using liquid chromatography-tandem mass spectrometry. We characterized the molecular species profile of CER in the plasma of patients with mild (adrenomyeloneuropathy;AMN) and severe (cerebral) X-ALD. Eleven X-ALD patients (five cerebral, five AMN, and one carrier) and 10 healthy volunteers participated in this study. Elevation of C26:0 CER was found to be a common feature regardless of the clinical types. The level of C26:1 CER was significantly higher in AMN but not in cerebral type, than that in healthy controls. The C26:1 CER level in the cerebral type was significantly lower than that in the AMN type. These results suggest that a high level of C26:0 CER, along with a control level of C26:1 CER, is a characteristic feature of the cerebral type X-ALD. J. Med. Invest. 70 : 403-410, August, 2023