Human globozoospermia-related genes and their role in acrosome biogenesis.

IF 4.6 3区 医学 Q2 MEDICINE, RESEARCH & EXPERIMENTAL WIREs Mechanisms of Disease Pub Date : 2023-03-01 DOI:10.1002/wsbm.1589
Ricardo D Moreno
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引用次数: 1

Abstract

The mammalian acrosome is a secretory vesicle attached to the sperm nucleus whose fusion with the overlying plasma membrane is required to achieve fertilization. Acrosome biogenesis starts during meiosis, but it lasts through the entire process of haploid cell differentiation (spermiogenesis). Acrosome biogenesis is a stepwise process that involves membrane traffic from the Golgi apparatus, but it also seems that the lysosome/endosome system participates in this process. Defective sperm head morphology is accompanied by defective acrosome shape and function, and patients with these characteristics are infertile or subfertile. The most extreme case of acrosome biogenesis failure is globozoospermia syndrome, which is primarily characterized by the presence of round-headed spermatozoa without acrosomes with cytoskeleton defects around the nucleus and infertility. Several genes participating in acrosome biogenesis have been uncovered using genetic deletions in mice, but only a few of them have been found to be deleted or modified in patients with globozoospermia. Understanding acrosome biogenesis is crucial to uncovering the molecular basis of male infertility and developing new diagnostic tools and assisted reproductive technologies that may help infertile patients through more effective treatment techniques. This article is categorized under: Reproductive System Diseases > Environmental Factors Infectious Diseases > Stem Cells and Development Reproductive System Diseases > Molecular and Cellular Physiology.

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人类球形精子症相关基因及其在顶体生物发生中的作用。
哺乳动物顶体是附着在精子核上的分泌囊泡,其与上覆的质膜融合是实现受精所必需的。顶体生物发生始于减数分裂,但贯穿于单倍体细胞分化(精子发生)的整个过程。顶体的生物发生是一个循序渐进的过程,涉及到高尔基体的膜传输,但溶酶体/内体系统似乎也参与了这一过程。精子头形态缺陷伴随着顶体形状和功能缺陷,具有这些特征的患者不育或生育能力低下。顶体生物发生失败的最极端的情况是球形精子症综合征,其主要特征是存在没有顶体的圆头精子,细胞核周围有细胞骨架缺陷和不育。一些参与顶体生物发生的基因已经在小鼠中发现了基因缺失,但只有少数基因在全球精子症患者中被删除或修饰。了解顶体生物发生对于揭示男性不育症的分子基础,开发新的诊断工具和辅助生殖技术,通过更有效的治疗技术帮助不育症患者至关重要。本文分类为:生殖系统疾病>环境因素传染病>干细胞与发育生殖系统疾病>分子与细胞生理学。
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WIREs Mechanisms of Disease
WIREs Mechanisms of Disease MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
11.40
自引率
0.00%
发文量
45
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