Facile discovery of red blood cell deformation and compromised membrane/skeleton assembly in Prader–Willi syndrome

doi:10.1007/s11684-022-0962-x

Frontiers of Medicine

2022, Vol. 16

Issue (6): 946-956 https://doi.org/10.1007/s11684-022-0962-x

本期目录

Facile discovery of red blood cell deformation and compromised membrane/skeleton assembly in Prader–Willi syndrome

Yashuang Yang^1,^2,³, Guimei Li⁵, Yanzhou Wang⁶, Yan Sun⁵, Chao Xu^2,³, Zhen Wei⁷, Shuping Zhang⁴(

), Ling Gao^1,^2,³, Sijin Liu⁴, Jiajun Zhao^1,^2,³(

)

¹. Department of Endocrinology, Shandong Provincial Hospital, Shandong University, Jinan 250021, China
². Department of Endocrinology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, China
³. Shandong Key Laboratory of Endocrinology and Lipid Metabolism, Jinan 250021, China
⁴. Medical Science and Technology Innovation Center, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan 250117, China
⁵. Department of Pediatrics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, China
⁶. Department of Pediatric Orthopedics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, China
⁷. Medical Social Work Office, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, China

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Abstract：

Prader–Willi syndrome (PWS) is a rare congenital disease with genetic alterations in chromosome 15. Although genetic disorders and DNA methylation abnormalities involved in PWS have been investigated to a significant degree, other anomalies such as those in erythrocytes may occur and these have not been clearly elucidated. In the present study, we uncovered slight anemia in children with PWS that was associated with increased red blood cell (RBC) distribution width (RDW) and contrarily reduced hematocrit (HCT) values. Intriguingly, the increased ratio in RDW to HCT allowed sufficient differentiation between the PWS patients from the healthy controls and, importantly, with individuals exhibiting conventional obesity. Further morphologic examinations revealed a significant deformity in erythrocytes and mild hemolysis in PWS patients. Comprehensive mechanistic investigations unveiled compromised membrane skeletal assembly and membrane lipid composition, and revealed a reduced F-actin/G-actin ratio in PWS patients. We ascribed these phenotypic changes in erythrocytes to the observed genetic defects, including DNA methylation abnormalities. Our collective data allowed us to uncover RBC deformation in children with PWS, and this may constitute an auxiliary indicator of PWS in early childhood.

Key words： Prader–Willi syndrome early diagnosis erythrocyte deformation membrane skeleton membrane lipid

收稿日期: 2022-06-17 出版日期: 2023-01-16

Corresponding Author(s): Shuping Zhang,Jiajun Zhao

引用本文:

. [J]. Frontiers of Medicine, 2022, 16(6): 946-956.
Yashuang Yang, Guimei Li, Yanzhou Wang, Yan Sun, Chao Xu, Zhen Wei, Shuping Zhang, Ling Gao, Sijin Liu, Jiajun Zhao. Facile discovery of red blood cell deformation and compromised membrane/skeleton assembly in Prader–Willi syndrome. Front. Med., 2022, 16(6): 946-956.

链接本文:

https://academic.hep.com.cn/fmd/CN/10.1007/s11684-022-0962-x
https://academic.hep.com.cn/fmd/CN/Y2022/V16/I6/946

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