Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophy

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.PMID:37940524 | DOI:10.2152/jmi.70.403

Source: Journal of Medical Investigation - November 8, 2023 Category: General Medicine Authors: 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 Source Type: research