Neurology Service and Stroke Unit, A.O. Brotzu, Cagliari, Italy.
Department of Biomedical Sciences, University of Cagliari, Monserrato, Cagliari, Italy.
Mov Disord. 2018 Aug;33(8):1331-1339. doi: 10.1002/mds.27391. Epub 2018 Mar 24.
The few studies that evaluated taste function in Parkinson's disease (PD) showed inconsistent results. The inherited ability to taste the bitter compound of 6-n-propylthiouracil has been considered to be a paradigm of general taste perception. 6-n-propylthiouracil taste perception is mediated by the TAS2R38 receptor, and reduced 6-n-propylthiouracil sensitivity has been associated with several diseases not typically related to taste function.
We evaluated the 6-n-propylthiouracil taste perception and the TAS2R38 gene as genetic risk factors for the development of idiopathic PD in PD patients and healthy controls (HC).
The 6-n-propylthiouracil taste perception was assessed by testing the responsiveness, and the ability to recognize, 6-n-propylthiouracil and sodium chloride. The participants were classified for 6-n-propylthiouracil taster status and genotyped for the TAS2R38 gene.
A significant increase in the frequency of participants classified as 6-n-propylthiouracil nontasters and a reduced ability to recognize bitter taste quality of 6-n-propylthiouracil were found in PD patients when compared with healthy controls. The results also showed that only 5% of PD patients had the homozygous genotype for the dominant tasting variant of TAS2R38, whereas most of them carried the recessive nontaster form and a high number had a rare variant.
Our results show that 6-n-propylthiouracil taster status and TAS2R38 locus are associated with PD. The 6-n-propylthiouracil test may therefore represent a novel, simple way to identify increased vulnerability to PD. Moreover, the presence of the nontasting form of TAS2R38 in PD may further substantiate that disease-associated taste disruption may represent a risk factor associated with the disease. © 2018 International Parkinson and Movement Disorder Society.
少数评估帕金森病(PD)味觉功能的研究结果不一致。对 6-正丙基硫氧嘧啶苦味化合物的遗传味觉能力已被认为是一般味觉感知的范例。6-正丙基硫氧嘧啶味觉感知由 TAS2R38 受体介导,6-正丙基硫氧嘧啶敏感性降低与几种通常与味觉功能无关的疾病有关。
我们评估了 6-正丙基硫氧嘧啶味觉感知和 TAS2R38 基因作为 PD 患者和健康对照(HC)发生特发性 PD 的遗传危险因素。
通过测试对 6-正丙基硫氧嘧啶的反应性和识别 6-正丙基硫氧嘧啶和氯化钠的能力来评估 6-正丙基硫氧嘧啶味觉感知。将参与者分为 6-正丙基硫氧嘧啶味觉者状态,并对 TAS2R38 基因进行基因分型。
与健康对照组相比,PD 患者中 6-正丙基硫氧嘧啶非味觉者的频率显著增加,识别 6-正丙基硫氧嘧啶苦味质量的能力降低。结果还表明,只有 5%的 PD 患者具有 TAS2R38 显性味觉变异的纯合基因型,而他们大多数携带隐性非味觉形式,并且许多人具有罕见的变异。
我们的研究结果表明,6-正丙基硫氧嘧啶味觉状态和 TAS2R38 基因座与 PD 相关。因此,6-正丙基硫氧嘧啶试验可能代表一种识别 PD 易感性增加的新的、简单的方法。此外,PD 中存在 TAS2R38 的非味觉形式可能进一步证实,与疾病相关的味觉障碍可能代表与疾病相关的危险因素。