IF 3.6 2区 医学 Q2 DEVELOPMENTAL BIOLOGY
Ron Peek, Sanne van der Coelen, Marie-Madeleine Dolmans
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引用次数: 0

摘要

在马赛克特纳综合征患者中,卵巢体细胞(颗粒细胞和基质细胞)的非整倍体程度很高,核型为 45 X,这可能会影响卵巢中的基因表达,导致生育能力下降。当前研究的目的是研究体细胞非整倍体对特纳综合征(45,X/46,XX)患者卵巢皮质基质细胞和小卵泡基因表达的影响。为此,通过腹腔镜手术从 8 名镶嵌型特纳综合征患者(5-19 岁)和 8 名对照组患者(6-18 岁)身上获取了卵巢皮质组织。对组织进行分馏,以获得纯化的卵泡和基质细胞。纯化后的部分组织用于通过相间荧光原位杂交(FISH)测定特纳综合征患者卵巢细胞的 X 染色体含量,其余部分则用于比较这些细胞与对照组的基因表达谱。结果表明,与对照组相比,特纳综合征患者皮质基质细胞中高水平的45、X单倍体对基因表达、卵巢大体形态或皮质组织学外观没有影响。对特纳综合征患者纯化的小卵泡进行基因表达分析后发现,有11个基因的表达出现异常。与对照组卵泡相比,其中6个基因(CD24、TLR1、EPHA2、PLXND1、ST6GALNAC5和NOX4)表达上调,5个基因(CRYAB、DLX1、PCYT2、TNFRSF8和CA12)表达下调。有趣的是,这些小卵泡中过表达的基因都与卵泡发育的晚期阶段有关。特纳综合征患者卵泡中这种异常基因表达的后果仍有待研究,但很可能会影响生育能力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Gene expression analysis of ovarian follicles and stromal cells in girls with Turner syndrome.

In patients with mosaic Turner syndrome, the ovarian somatic cells (granulosa and stromal cells) display a high level of aneuploidy with a 45,X karyotype, which may affect gene expression in the ovary and contribute to their reduced fertility. The aim of the current research is to study the effect of aneuploidy of somatic ovarian cells on gene expression in ovarian cortex stromal cells and small ovarian follicles from mosaic (45,X/46,XX) Turner syndrome patients. To this end, ovarian cortical tissue was obtained by laparoscopic surgery from eight mosaic Turner syndrome patients (aged 5-19 years) and eight controls (aged 6-18 years). The tissue was fractionated to obtain purified follicles and stromal cells. Part of the purified fractions was used to determine the X chromosomal content of ovarian cells of Turner syndrome patients by interphase FISH, while the remaining part was used to compare the gene expression profile of these cells to controls. The results demonstrated that high level 45,X haploidy in cortical stromal cells of Turner syndrome patients had no effect on gene expression, gross morphology of the ovary, or histological appearance of the cortex compared to controls. Gene expression analysis of purified small follicles of Turner syndrome patients with mainly 45,X granulosa cells revealed aberrant expression of 11 genes. Of these, six were upregulated (CD24, TLR1, EPHA2, PLXND1, ST6GALNAC5, and NOX4) while five genes (CRYAB, DLX1, PCYT2, TNFRSF8, and CA12) were downregulated compared to follicles of controls. Interestingly, the overexpressed genes in these small follicles were all associated with more advanced stages of follicular development. The consequences of this abnormal gene expression in follicles for Turner syndrome patients remain to be investigated, but they are likely to affect fertility.

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来源期刊
Molecular human reproduction
Molecular human reproduction 生物-发育生物学
CiteScore
8.30
自引率
0.00%
发文量
37
审稿时长
6-12 weeks
期刊介绍: MHR publishes original research reports, commentaries and reviews on topics in the basic science of reproduction, including: reproductive tract physiology and pathology; gonad function and gametogenesis; fertilization; embryo development; implantation; and pregnancy and parturition. Irrespective of the study subject, research papers should have a mechanistic aspect.
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