Department of Behavioral Neuroscience, Oregon Health & Science University, Portland, OR 97239, USA.
Department of Microbiology, Oregon State University, Corvallis, OR 97331, USA.
Genes (Basel). 2024 Feb 23;15(3):282. doi: 10.3390/genes15030282.
Heterozygous carriers of the glucocerebrosidase 1 (GBA) L444P Gaucher mutation have an increased risk of developing Parkinson's disease (PD). The GBA mutations result in elevated alpha synuclein (aSyn) levels. Heterozygous mice carrying one allele with the L444P mutation knocked-into the mouse gene show increased aSyn levels and are more sensitive to motor deficits following exposure to the neurotoxin (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine) MPTP than wild-type mice. Paraquat (PQ), a herbicide, increases PD risk in most studies. Its effects on the brain involve alterations in the gut microbiome. Exposure to dextran sulfate sodium (DSS), a mouse model of colitis, can be used to determine whether gut microbiome alterations are sufficient to induce PD-relevant phenotypes. We rederived the A53T-L444P and A53T mouse lines to assess whether PQ, PQ in combination with radiation exposure (IR), and DSS have differential effects in A53T and A53T-L444P mice and whether these effects are associated with alterations in the gut microbiome. PQ and PQ + IR have differential effects in A53T and A53T-L444P mice. In contrast, effects of DSS are only seen in A53T-L444P mice. Exposure and genotype modulate the relationship between the gut microbiome and behavioral performance. The gut microbiome may be an important mediator of how environmental exposures or genetic mutations yield behavioral and cognitive impacts.
杂合子携带葡萄糖脑苷脂酶 1 (GBA) L444P Gaucher 突变会增加患帕金森病 (PD) 的风险。GBA 突变导致α-突触核蛋白 (aSyn) 水平升高。携带一个等位基因 L444P 突变的杂合子小鼠,其基因被敲入小鼠基因中,显示出更高的 aSyn 水平,并且在暴露于神经毒素 (1-甲基-4-苯基-1,2,3,6-四氢吡啶) MPTP 后,比野生型小鼠更容易出现运动缺陷。百草枯 (PQ) 是一种除草剂,在大多数研究中都会增加 PD 的风险。其对大脑的影响涉及肠道微生物组的改变。暴露于葡聚糖硫酸钠 (DSS),一种结肠炎的小鼠模型中,可以用来确定肠道微生物组的改变是否足以诱导与 PD 相关的表型。我们重新衍生了 A53T-L444P 和 A53T 小鼠系,以评估 PQ、PQ 与辐射暴露 (IR) 的组合以及 DSS 在 A53T 和 A53T-L444P 小鼠中是否有不同的作用,以及这些作用是否与肠道微生物组的改变有关。PQ 和 PQ + IR 在 A53T 和 A53T-L444P 小鼠中有不同的作用。相比之下,DSS 的作用仅见于 A53T-L444P 小鼠。暴露和基因型调节了肠道微生物组与行为表现之间的关系。肠道微生物组可能是环境暴露或基因突变导致行为和认知影响的重要介质。