Tonacci Alessandro, Borghini Andrea, Mercuri Antonella, Pioggia Giovanni, Andreassi Maria Grazia
J Biomed Sci. 2013 Aug 7;20(1):57. doi: 10.1186/1423-0127-20-57.
Brain- derived neurotrophic factor (BDNF) is linked to neurodegenerative diseases (e.g. Alzheimer disease and Parkinson disease) which are often characterized by olfactory impairment. A specific single nucleotide polymorphism of the BDNF gene, the Val66Met, modulates intracellular trafficking and activity-dependent secretion of BDNF protein. The aim of this study was to investigate a possible association between brain- derived neurotrophic factor Val66Met polymorphism and olfactory function, a well-known biomarker for neurodegeneration, in healthy young adults. A total of 101 subjects (45 males, age 38.7 ± 9.4 years) were assessed using the Sniffin' Sticks Extended Test, a highly reliable commercial olfactory test composed of three sub-parts, calculating olfactory threshold (sensitivity), odor discrimination and odor identification. The Val66Met polymorphism was determined by polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) analysis.
An impaired function in Met carriers was found, especially when compared to subjects with Val/Val genotype, in the threshold (5.5 ± 2.0 vs 6.5 ± 1.8, p = 0.009), discrimination (10.3± 2.5 vs 11.9 ± 2.2, p = 0.002), and identification task (13.3 ± 1.6 vs 14.1 ± 1.3, p = 0.007), as well as in the overall TDI Score (29.1 ± 4.5 vs 32.6 ± 3.9, p < 0.001).
These findings appear to have implications for the evaluation of olfactory function and the relation of its impairment to cognitive decline and neurodegenerative disease.
脑源性神经营养因子(BDNF)与神经退行性疾病(如阿尔茨海默病和帕金森病)相关,这些疾病通常以嗅觉障碍为特征。BDNF基因的一种特定单核苷酸多态性,即Val66Met,可调节BDNF蛋白的细胞内运输和活性依赖性分泌。本研究的目的是调查健康年轻成年人中脑源性神经营养因子Val66Met多态性与嗅觉功能(一种众所周知的神经退行性变生物标志物)之间可能存在的关联。使用嗅觉棒扩展测试对总共101名受试者(45名男性,年龄38.7±9.4岁)进行评估,该测试是一种高度可靠的商业嗅觉测试,由三个子部分组成,用于计算嗅觉阈值(敏感性)、气味辨别和气味识别。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析确定Val66Met多态性。
发现Met携带者的功能受损,尤其是与Val/Val基因型受试者相比,在阈值(5.5±2.0对6.5±1.8,p=0.009)、辨别(10.3±2.5对11.9±2.2,p=0.002)、识别任务(13.3±1.6对14.1±1.3,p=0.007)以及总体TDI评分(29.1±4.5对32.6±3.9,p<0.001)方面。
这些发现似乎对嗅觉功能评估及其损害与认知衰退和神经退行性疾病的关系具有启示意义。