Kingma Sandra D K, Wagemans Tom, IJlst Lodewijk, Seppen Jurgen, Gijbels Marion J J, Wijburg Frits A, van Vlies Naomi
Department of Pediatrics and Amsterdam Lysosome Centre "Sphinx", Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
JIMD Rep. 2015;23:77-83. doi: 10.1007/8904_2015_432. Epub 2015 Apr 9.
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder characterized by diminished degradation of the glycosaminoglycans heparan sulfate (HS) and dermatan sulfate (DS). Patients present with a variety of symptoms, including severe skeletal disease. Current therapeutic strategies have only limited effects on bone disease. The isoflavone genistein has been studied as a potential therapy for the mucopolysaccharidoses because of its putative ability to inhibit GAG synthesis and subsequent accumulation. Cell, animal, and clinical studies, however, showed variable outcomes. To determine the effects of genistein on MPS I-related bone disease, wild-type (WT) and MPS I mice were fed a genistein-supplemented diet (corresponding to a dose of approximately 160 mg/kg/day) for 8 weeks. HS and DS levels in bone and plasma remained unchanged after genistein supplementation, while liver HS levels were decreased in genistein-fed MPS I mice as compared to untreated MPS I mice. Unexpectedly, genistein-fed mice exhibited significantly decreased body length and femur length. In addition, 60% of genistein-fed MPS I mice developed a scrotal hernia and/or scrotal hydrocele, manifestations, which were absent in WT or untreated MPS I mice. In contrast to studies in MPS III mice, our study in MPS I mice demonstraes no beneficial but even potential adverse effects of genistein supplementation. Our results urge for a cautious approach on the use of genistein, at least in patients with MPS I.
I型黏多糖贮积症(MPS I)是一种溶酶体贮积病,其特征是硫酸乙酰肝素(HS)和硫酸皮肤素(DS)这两种糖胺聚糖的降解减少。患者会出现多种症状,包括严重的骨骼疾病。目前的治疗策略对骨骼疾病的效果有限。异黄酮染料木黄酮因其可能具有抑制糖胺聚糖合成及随后蓄积的能力,已被作为黏多糖贮积症的一种潜在治疗方法进行研究。然而,细胞、动物和临床研究显示出了不同的结果。为了确定染料木黄酮对MPS I相关骨骼疾病的影响,给野生型(WT)和MPS I小鼠喂食添加了染料木黄酮的饮食(相当于剂量约为160毫克/千克/天),持续8周。补充染料木黄酮后,骨骼和血浆中的HS和DS水平保持不变,而与未治疗的MPS I小鼠相比,喂食染料木黄酮的MPS I小鼠肝脏中的HS水平有所下降。出乎意料的是,喂食染料木黄酮的小鼠体长和股骨长度显著降低。此外,60%喂食染料木黄酮的MPS I小鼠出现了阴囊疝和/或阴囊积水,而WT或未治疗的MPS I小鼠没有这些表现。与对MPS III小鼠的研究不同,我们对MPS I小鼠的研究表明,补充染料木黄酮没有益处,甚至可能有潜在的不良影响。我们的结果促使人们谨慎使用染料木黄酮,至少对于MPS I患者要谨慎。