- 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
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
- 著者
- Tamotsu Tanaka Kazuya Koyama Naoko Takahashi Katsuya Morito Hanif Ali Momoyo Azuma Kozo Kagawa Hiroshi Kawano Rumana Yesmin Has Mutsumi Aihara Yasuhiko Nishioka
- 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.69, no.3.4, pp.196-203, 2022 (Released:2022-10-17)
- 参考文献数
- 26
- 被引用文献数
- 2
Idiopathic pulmonary fibrosis (IPF) is the most common idiopathic interstitial pneumonias. Lysophosphatidic acid (LPA) and sphingosine 1-phosphate (S1P) are signaling lipids that evoke growth factor-like responses to many cells. Recent studies revealed the involvement of LPA and S1P in the pathology of IPF. In this study, we determined LPA, S1P and ceramide 1-phosphate (C1P) in peripheral blood plasma of IPF patients, and examined correlation to the vital capacity of lung (VC), an indicator of development of fibrosis. Blood plasma samples were taken from eleven patients with IPF and seven healthy volunteers. The lipids of the sample were extracted and subjected to liquid chromatography-tandem mass spectrometry for analysis. Results showed that there is a significant negative correlation between VC and plasma LPA levels, indicating that IPF patients with advanced fibrosis had higher concentration of LPA in their plasma. Average of S1P levels were significantly higher in IPF patients than those in healthy subjects. Although it is not statistically significant, a similar correlation trend that observed in LPA levels also found between VC and S1P levels. These results indicated that plasma LPA and S1P may be associated with deterioration of pulmonary function of IPF patients. J. Med. Invest. 69 : 196-203, August, 2022