Mucopolysaccharidosis type I (MPS I) is a genetic disease caused by a deficiency of the lysosomal hydrolase α-l-iduronidase (IDUA). IDUA degrades two types of glycosaminoglycans (GAGs): heparan and dermatan sulfates, important components of extracellular matrix, with signaling and structural functions. The accumulation of GAGs results in progressive physiological impairments in a variety of tissues, making MPS I a complex and multisystemic disease. Due the advent of therapeutic strategies which have increased patients’ life expectancy, our group have been investigating the effect of IDUA deficiency on the reproductive system. In the present study, we aimed to characterize some of the accessory glands of the male reproductive tract in an MPS I mouse model. We used 6-month-old Idua+/+ and Idua−/− male mice to evaluate the histology of the seminal vesicles and prostate. Interstitial deposits of GAGs and collagen fibers were also observed. Seminal vesicles were smaller in the Idua−/− group, regardless of the normal staining pattern of the epithelial cells, marked with antiandrogen receptor. The prostate of Idua−/− mice presented necrotic acini and increased deposition of collagen fibers in the interstitium. All glands presented evident deposits of GAGs in the extracellular matrix, especially inside vacuolated interstitial cells. We concluded that, at this stage of the disease, the prostate is the most damaged accessory gland and may therefore, be the first to manifest functional impairments during disease progression.

中文翻译：

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I型粘多糖贮积症（MPS I）小鼠模型中雄性生殖附属腺的形态学描述。

I型粘多糖贮积病（MPS I）是一种由于溶酶体水解酶α- 1-异丁烯酸酶（IDUA）缺乏引起的遗传疾病。IDUA降解两种类型的糖胺聚糖（GAG）：乙酰肝素和硫酸皮肤素，它们是细胞外基质的重要成分，具有信号传导和结构功能。GAG的积累会导致多种组织的进行性生理损伤，从而使MPS I成为复杂的多系统疾病。由于增加了患者预期寿命的治疗策略的出现，我们小组一直在研究IDUA缺乏症对生殖系统的影响。在本研究中，我们旨在表征MPS I小鼠模型中雄性生殖道的一些附属腺体。我们使用了6个月大的Idua+ / +和Idua -/-雄性小鼠评估精囊和前列腺的组织学。还观察到GAG和胶原纤维的间隙沉积。Idua -/-组中的精囊较小，而与抗雄激素受体标记的上皮细胞的正常染色模式无关。Idua -/-小鼠的前列腺呈现坏死性痤疮，并且胶原蛋白在间质中的沉积增加。所有腺体在细胞外基质中，特别是在空化的间质细胞内部，均表现出明显的GAG沉积。我们得出的结论是，在疾病的这个阶段，前列腺是受损最严重的副腺，因此可能是在疾病发展过程中最先出现功能障碍的地方。