PDF(Pubmed)
Abstract：
Globozoospermia is a form of male infertility characterized by spermatozoa with spherical heads lacking acrosomes. The aim of this study was to evaluate ultrastructural and molecular defects in different types of globozoospermia. Semen samples from 12 infertile patients (9 with complete globozoospermia and 3 with partial globozoospermia) and 10 normozoospermic men (control) were examined by transmission electron microscopy and immunocytochemistry with antibodies against lamin B1. The presence of lamin A and progerin was assessed by reverse transcription-PCR. Whole exome sequencing was performed in three patients. In semen samples with complete and partial globozoospermia, lamin B1 was observed at the periphery of sperm nuclei, whereas lamin A and progerin were absent. Nuclear envelope pores were found in spermatozoa from both patient groups, regardless of morphology and chromatin condensation, in contrast to the control group. Non-condensed chromatin was present in 51%-81% of cases of complete globozoospermia and in 36%-79% of cases of partial globozoospermia. Homozygous DPY19L2 and SPATA16 variants were identified in two patients with partial globozoospermia and one patient with complete globozoospermia. An atypical nuclear membrane with abnormal nuclear pore distribution and lamin B1 localization was observed in spermatozoa from patients with both complete and partial globozoospermia. The genetic defects in the DPY19L2 and SPATA16 genes detected in patients from both globozoospermic groups suggest a generalized disruption of nuclear structure in globozoospermia, highlighting the genetic and phenotypic similarities between complete and partial globozoospermia.
摘要：
球精子症是男性不育的一种形式，其特征是精子的球形头缺乏顶体。这项研究的目的是评估不同类型的球精子症的超微结构和分子缺陷。通过透射电子显微镜和免疫细胞化学检查了来自12名不育患者（9名患有完全球形精子症，3名患有部分球形精子症）和10名正常精子症男性（对照）的精液样本。通过逆转录PCR评估了层粘连蛋白A和孕激素的存在。对3例患者进行全外显子组测序。在具有完全和部分球精子症的精液样本中，在精子核的外围观察到层粘连蛋白B1，而laminA和progerin不存在。在两组患者的精子中都发现了核膜孔，无论形态和染色质凝聚，与对照组相比。在51％-81％的完全球精子症病例和36％-79％的部分球精子症病例中存在非凝聚染色质。在两名部分球形精子症患者和一名完全球形精子症患者中鉴定出纯合DPY19L2和SPATA16变体。在完全和部分全精子症患者的精子中观察到具有异常核孔分布和层粘连蛋白B1定位的非典型核膜。在两个球形精子症组的患者中检测到的DPY19L2和SPATA16基因的遗传缺陷表明，球形精子症中核结构的普遍破坏，强调完全和部分球形精子症之间的遗传和表型相似性。
