Phosphatidylethanolamines are the Main Lipid Class Altered in Red Blood Cells from Patients with VPS13A Disease/Chorea-Acanthocytosis

IF 7.6 1区医学 Q1 CLINICAL NEUROLOGY Movement Disorders Pub Date : 2024-12-12 DOI:10.1002/mds.30086

Kevin Peikert MD, Adrian Spranger, Gabriel Miltenberger-Miltenyi MD, Hannes Glaß PhD, Björn Falkenburger MD, Christian Klose PhD, Donatienne Tyteca PhD, Andreas Hermann MD, PhD

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Abstract

Background

VPS13A disease is an ultra-rare disorder caused by loss of function mutations in VPS13A characterized by striatal degeneration and by red blood cell (RBC) acanthocytosis. VPS13A is a bridge-like protein mediating lipid transfer at membrane contact sites.

Objectives

To assess the lipid composition of patient-derived RBCs.

Methods

RBCs collected from 5 VPS13A disease patients and 12 control subjects were analyzed by mass spectrometry (lipidomics).

Results

While we found no significant differences in the overall lipid class level, alterations in certain species were detected: phosphatidylethanolamine species with both longer chain length and higher unsaturation were increased in VPS13A disease samples. Specific ceramide, phosphatidylcholine, and sphingomyelin species were also altered.

Conclusions

The presented alterations of particular lipid species in RBCs in VPS13A disease may contribute to (1) the understanding of acanthocyte formation, and (2) future biomarker identification. Lipid distribution seems to play a key role in the pathophysiology of VPS13A disease. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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磷脂酰乙醇胺是VPS13A病/舞蹈病-棘胞增多症患者红细胞中发生改变的主要脂类。

背景：VPS13A疾病是一种由VPS13A功能突变丧失引起的超罕见疾病，其特征为纹状体变性和红细胞棘细胞增多症。VPS13A是一种桥状蛋白，介导膜接触部位的脂质转移。目的：评估患者来源的红细胞的脂质组成。方法：采用质谱法（脂质组学）对5例VPS13A病患者和12例对照组的红细胞进行分析。结果：虽然我们发现整体脂类水平没有显著差异，但在某些物种中发现了变化：在VPS13A疾病样本中，具有较长链长和较高不饱和度的磷脂酰乙醇胺物种增加。特定的神经酰胺、磷脂酰胆碱和鞘磷脂种类也发生了变化。结论：在VPS13A疾病中，红细胞中特定脂质种类的改变可能有助于(1)了解棘细胞的形成，(2)未来的生物标志物鉴定。脂质分布似乎在VPS13A疾病的病理生理中起关键作用。©2024作者。Wiley期刊有限责任公司代表国际帕金森和运动障碍学会出版的《运动障碍》。

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来源期刊

Movement Disorders 医学-临床神经学

CiteScore

13.30

自引率

8.10%

发文量

371

审稿时长

12 months

期刊介绍： Movement Disorders publishes a variety of content types including Reviews, Viewpoints, Full Length Articles, Historical Reports, Brief Reports, and Letters. The journal considers original manuscripts on topics related to the diagnosis, therapeutics, pharmacology, biochemistry, physiology, etiology, genetics, and epidemiology of movement disorders. Appropriate topics include Parkinsonism, Chorea, Tremors, Dystonia, Myoclonus, Tics, Tardive Dyskinesia, Spasticity, and Ataxia.