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PAR1/2数量异常可影响特纳综合征中的效应T细胞亚群。

Abnormal PAR1/2 Number Can Influence Effector T Cell Subsets in Turner Syndrome.

作者信息

Miyakoshi Ai, Sueyoshi Sumiko, Ijuin Akifumi, Hamada Haru, Nishi Mayuko, Tochihara Shiori, Saito Marina, Ueno Hiroe, Kasai Michi, Saito Shin, Asano Ryoko, Mizushima Taichi, Miyagi Etsuko, Murase Mariko, Tanoshima Miki, Sakakibara Hideya, Hayama Tomonari

机构信息

Center for Reproductive Medicine, Yokohama City University Medical Center, Yokohama, Japan.

Department of Obstetrics and Gynecology, Yokohama City University School of Medicine, Yokohama, Japan.

出版信息

Mol Syndromol. 2025 May 20:1-11. doi: 10.1159/000546378.

Abstract

INTRODUCTION

Turner syndrome is a complicated gonadal insufficiency, infertility, and endocrine disease caused by the partial to complete loss of one X chromosome. Women with Turner syndrome have been reported to show altered effector T-cell subgroups; however, the relationship between T-cell subgroups and chromosome type remains unknown.

METHODS

In this study, we investigated immune abnormalities and karyotypes of Turner syndrome. Using flowcytometry, we examined the T-cell subsets of 20 women with Turner syndrome and 23 women serving as controls (without recurrent pregnancy loss), between July 2021 and June 2022. Background data of the women with Turner syndrome were also collected.

RESULTS

Significantly lower levels of helper T-cells 1 and 2 were observed in women with Turner syndrome than in the control group (4.5 ± 2.88 vs. 8.54 ± 4.45, < 0.05, 0.56 ± 0.38 vs. 0.97 ± 0.48, < 0.05, respectively). With respect to karyotypes, deletion of a specific region, pseudoautosomal region 2, which typically escapes X-inactivation, might influence regulatory T cells (Treg) levels as copy number of PAR2 and Treg rate were positively correlated ( = 0.76).

CONCLUSION

Individuals with Turner syndrome showed an altered T-cell subset, which might be caused by the deletion of a specific part of the X chromosome, pseudoautosomal region 2. This finding suggests that women with Turner syndrome in a specific karyotype show altered T-cell subsets, and more cases are needed to determine whether these T-cell changes could influence pregnancy outcomes.

摘要

引言

特纳综合征是一种由一条X染色体部分或完全缺失引起的复杂的性腺功能不全、不孕和内分泌疾病。据报道,特纳综合征女性的效应T细胞亚群发生了改变;然而,T细胞亚群与染色体类型之间的关系尚不清楚。

方法

在本研究中,我们调查了特纳综合征的免疫异常和核型。在2021年7月至2022年6月期间,我们使用流式细胞术检查了20名特纳综合征女性和23名作为对照(无复发性流产)的女性的T细胞亚群。还收集了特纳综合征女性的背景数据。

结果

特纳综合征女性的辅助性T细胞1和2水平显著低于对照组(分别为4.5±2.88对8.54±4.45,<0.05;0.56±0.38对0.97±0.48,<0.05)。关于核型,通常逃避X染色体失活的特定区域——假常染色体区域2的缺失可能会影响调节性T细胞(Treg)水平,因为PAR2的拷贝数与Treg率呈正相关(=0.76)。

结论

特纳综合征患者的T细胞亚群发生了改变,这可能是由X染色体的特定部分——假常染色体区域2的缺失引起的。这一发现表明,特定核型的特纳综合征女性表现出T细胞亚群的改变,需要更多病例来确定这些T细胞变化是否会影响妊娠结局。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08bb/12187167/633ec5077c35/msy-2025-0000-0000-546378_F01.jpg

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