Dipartimento di Scienze della Vita e dell'Ambiente, Università di Cagliari, Monserrato (CA), Italy.
Mol Cell Proteomics. 2013 Jul;12(7):1844-52. doi: 10.1074/mcp.M112.026708. Epub 2013 Mar 26.
People with Down syndrome, a frequent genetic disorder in humans, have increased risk of health problems associated with this condition. One clinical feature of Down syndrome is the increased prevalence and severity of periodontal disease in comparison with the general population. Because saliva plays an important role in maintaining oral health, in the present study the salivary proteome of Down syndrome subjects was investigated to explore modifications with respect to healthy subjects. Whole saliva of 36 Down syndrome subjects, divided in the age groups 10-17 yr and 18-50 yr, was analyzed by a top-down proteomic approach, based on the high performance liquid chromatography-electrospray ionization-MS analysis of the intact proteins and peptides, and the qualitative and quantitative profiles were compared with sex- and age-matched control groups. The results showed the following interesting features: 1) as opposed to controls, in Down syndrome subjects the concentration of the major salivary proteins of gland origin did not increase with age; as a consequence concentration of acidic proline rich proteins and S cystatins were found significantly reduced in older Down syndrome subjects with respect to matched controls; 2) levels of the antimicrobial α-defensins 1 and 2 and histatins 3 and 5 were significantly increased in whole saliva of older Down syndrome subjects with respect to controls; 3) S100A7, S100A8, and S100A12 levels were significantly increased in whole saliva of Down syndrome subjects in comparison with controls. The increased level of S100A7 and S100A12 may be of particular interest as a biomarker of early onset Alzheimer's disease, which is frequently associated with Down syndrome.
唐氏综合征患者是一种常见的人类遗传性疾病，他们患有多种与该疾病相关的健康问题的风险增加。唐氏综合征的一个临床特征是与普通人群相比，牙周病的患病率和严重程度增加。由于唾液在维持口腔健康方面发挥着重要作用，因此在本研究中，我们研究了唐氏综合征患者的唾液蛋白质组，以探讨其与健康对照组相比的变化。我们采用自上而下的蛋白质组学方法分析了 36 名唐氏综合征患者的全唾液，这些患者分为 10-17 岁和 18-50 岁两个年龄组，基于对完整蛋白质和肽的高效液相色谱-电喷雾电离-MS 分析，并比较了性别和年龄匹配的对照组的定性和定量图谱。结果显示了以下有趣的特征：1）与对照组相比，唐氏综合征患者的腺体来源的主要唾液蛋白浓度并没有随着年龄的增长而增加；因此，在年龄较大的唐氏综合征患者中，酸性脯氨酸丰富蛋白和 S 胱抑素的浓度明显低于匹配的对照组；2）在年龄较大的唐氏综合征患者的全唾液中，抗菌α-防御素 1 和 2 以及组织蛋白酶抑制剂 3 和 5 的水平明显高于对照组；3）在唐氏综合征患者的全唾液中，S100A7、S100A8 和 S100A12 的水平明显高于对照组。S100A7 和 S100A12 的水平升高可能特别有趣，因为它们是早发性阿尔茨海默病的生物标志物，而唐氏综合征通常与早发性阿尔茨海默病有关。
