Delineating a novel metabolic high triglycerides-low waxes syndrome that affects lipid homeostasis in meibomian and sebaceous glands.
Delineating a novel metabolic high triglycerides-low waxes syndrome that affects lipid homeostasis in meibomian and sebaceous glands.
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DOI：
10.1016/j.exer.2020.108189
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发表时间：
2020-10
影响因子：
3.4
通讯作者：
Suzuki T
中科院分区：
文献类型：
--
作者：
Butovich IA;Suzuki T
嵌入人类眼睑睑板中的睑板腺和皮肤（包括眼睑）中发现的皮脂腺是两种相关类型的全分泌腺，它们产生富含脂质的分泌物，称为睑脂和皮脂。普遍的眼部疾病，例如睑板腺功能障碍和干眼症，与睑板脂质成分的变化有关。然而，在大多数描述的情况下，这些变化要么很小，要么是随机的，或者在分子水平上没有充分表征。在这里，我们展示了一位分泌物高度异常的患者（睑脂、眼泪和皮脂异常，或 AMTS，患者）的睑脂、泪液和皮脂的综合脂质组学分析结果。使用超高效液相色谱和高分辨率质谱法对脂质组在单个脂质种类的水平上进行了表征。 AMTS 患者与正常年龄和性别匹配受试者之间的主要差异包括，除其他外，正常睑板脂质池严重减少，例如睑板和泪液中的蜡酯和胆固醇酯，总胆固醇酯与蜡酯的比率增加 2 倍，其分子特征倾斜，游离胆固醇与胆固醇酯的比率增加约 3 倍，最重要的是，游离胆固醇与胆固醇酯的比率增加 20 倍至 30 倍。甘油三酯分数超过正常值。 AMTS 患者的皮脂也高度异常，缺乏主要蜡酯。值得注意的是，AMTS患者的常规血脂检测未见异常。数据表明，AMTS 患者患有以前未报告的严重代谢紊乱，影响睑板腺的睑板生成和皮脂腺的皮脂生成。据我们所知，这是对我们称之为高甘油三酯/低蜡（HTLW）综合症的情况的首次观察。
Meibomian glands that are embedded in tarsal plates of human eyelids, and sebaceous glands found in the skin, including that of eyelids, are two related types of holocrine glands that produce lipid-rich secretions called meibum and sebum. Pervasive ocular disorders, such as Meibomian gland dysfunction and dry eye, have been linked to changes in the lipid composition of meibum. However, in most described cases the changes were either small, or random, or insufficiently characterized on the molecular level. Here, we present results of comprehensive lipidomic analyses of meibum, tears and sebum of a patient whose secretions were highly abnormal (abnormal meibum, tears and sebum, or AMTS, patient). The lipidomes were characterized on the level of individual lipid species using ultra-high performance liquid chromatography and high resolution mass spectrometry. The major differences between the AMTS patient and normal age- and gender-matched subjects included, among others, severely diminished pools of normal meibomian lipids such as wax esters and cholesteryl esters in meibum and tears, a 2x increase in total cholesteryl esters to wax esters ratio, their skewed molecular profiles, a ~3x increase in free cholesterol to cholesteryl esters ratio, and, most importantly, a 20x to 30x increase in the triglicerides fraction over the norm. Sebum of the AMTS patient was also highly abnormal lacking major wax esters. Notably, the routine blood lipid panel test of the AMTS patient showed no abnormalities. The data imply that the AMTS patient had a severe, previously unreported, metabolic disorder that affected meibogenesis in Meibomian glands and sebogenesis in sebaceous glands. This is, to the best of our knowledge, a first observation of the condition that we have termed High Triglycerides/Low Waxes (HTLW) syndrome.
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影响因子：
3.4
作者：
Borchman, Douglas;Yappert, Marta C.;Foulks, Gary N.
通讯作者：
Foulks, Gary N.
影响因子：
4.4
作者：
Butovich, Igor A.;Arciniega, Juan C.;Molai, Mike
通讯作者：
Molai, Mike
影响因子：
4.1
作者：
Joffre, C.;Souchier, M.;Creuzot-Garcher, C.
通讯作者：
Creuzot-Garcher, C.
影响因子：
5.8
作者：
Krenzer, KL;Dana, MR;Sullivan, DA
通讯作者：
Sullivan, DA
影响因子：
5.6
作者：
Butovich, Igor A.;Bhat, Nita;Wojtowicz, Jadwiga C.
通讯作者：
Wojtowicz, Jadwiga C.