法布里病小鼠中的糖鞘脂储存超出了三己糖神经酰胺的范围，并受到ABCB1缺失的影响。
Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion.
作者信息
Kamani Mustafa A, Provençal Philippe, Boutin Michel, Pacienza Natalia, Fan Xin, Novak Anton, Huang Tonny C, Binnington Beth, Au Bryan C, Auray-Blais Christiane, Lingwood Clifford A, Medin Jeffrey A
机构信息
University Health Network, Toronto, Ontario, M5G 1L7, Canada; University Health Network, Toronto, Ontario, M5G 1L7, Canada.
Department of Pediatrics, Division of Medical Genetics, Université de Sherbrooke, CHUS, Hospital Fleurimont, Sherbrooke, Quebec, J1H 5N4, Canada; Department of Pediatrics, Division of Medical Genetics, Université de Sherbrooke, CHUS, Hospital Fleurimont, Sherbrooke, Quebec, J1H 5N4, Canada.
出版信息
Future Sci OA. 2016 Oct 13;2(4):FSO147. doi: 10.4155/fsoa-2016-0027. eCollection 2016 Dec.
AIM
Fabry disease is caused by α-galactosidase A deficiency leading to accumulation of globotriaosylceramide (Gb) in tissues. Clinical manifestations do not appear to correlate with total Gb levels. Studies examining tissue distribution of specific acyl chain species of Gb and upstream glycosphingolipids are lacking.
MATERIAL & METHODS/RESULTS: Thorough characterization of the Fabry mouse sphingolipid profile by LC-MS revealed unique Gb acyl chain storage profiles. Storage extended beyond Gb; all Fabry tissues also accumulated monohexosylceramides. Depletion of ABCB1 had a complex effect on glycosphingolipid storage.
CONCLUSION
These data provide insights into how specific sphingolipid species correlate with one another and how these correlations change in the α-galactosidase A-deficient state, potentially leading to the identification of more specific biomarkers of Fabry disease.
目的
法布里病由α-半乳糖苷酶A缺乏引起，导致组织中球三糖神经酰胺（Gb）蓄积。临床表现似乎与总Gb水平无关。缺乏对Gb特定酰基链种类及上游糖鞘脂组织分布的研究。
材料与方法/结果：通过液相色谱-质谱联用对法布里病小鼠鞘脂谱进行全面表征，揭示了独特的Gb酰基链储存谱。储存超出了Gb范围；所有法布里病组织还蓄积了单己糖神经酰胺。ABCB1的缺失对糖鞘脂储存有复杂影响。
结论
这些数据为特定鞘脂种类如何相互关联以及在α-半乳糖苷酶A缺乏状态下这些关联如何变化提供了见解，这可能有助于识别更具特异性的法布里病生物标志物。
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