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Lrrk2 和 Rab29 的联合敲除在体内不会导致行为异常。

Combined Knockout of Lrrk2 and Rab29 Does Not Result in Behavioral Abnormalities in vivo.

机构信息

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Howard University, Washington, DC, USA.

出版信息

J Parkinsons Dis. 2021;11(2):569-584. doi: 10.3233/JPD-202172.

Abstract

BACKGROUND

Coding mutations in the LRRK2 gene, encoding for a large protein kinase, have been shown to cause familial Parkinson's disease (PD). The immediate biological consequence of LRRK2 mutations is to increase kinase activity, suggesting that inhibition of this enzyme might be useful therapeutically to slow disease progression. Genome-wide association studies have identified the chromosomal loci around LRRK2 and one of its proposed substrates, RAB29, as contributors towards the lifetime risk of sporadic PD.

OBJECTIVE

Considering the evidence for interactions between LRRK2 and RAB29 on the genetic and protein levels, we set out to determine whether there are any consequences on brain function with aging after deletion of both genes.

METHODS

We generated a double knockout mouse model and performed a battery of motor and non-motor behavioral tests. We then investigated postmortem assays to determine the presence of PD-like pathology, including nigral dopamine cell count, astrogliosis, microgliosis, and striatal monoamine content.

RESULTS

Behaviorally, we noted only that 18-24-month Rab29-/- and double (Lrrk2-/-/Rab29-/-) knockout mice had diminished locomotor behavior in open field compared to wildtype mice. However, no genotype differences were seen in the outcomes that represented PD-like pathology.

CONCLUSION

These results suggest that depletion of both LRRK2 and RAB29 is tolerated, at least in mice, and support that this pathway might be able to be safely targeted for therapeutics in humans.

摘要

背景

编码大型蛋白激酶的 LRRK2 基因突变已被证实可导致家族性帕金森病(PD)。LRRK2 突变的直接生物学后果是增加激酶活性,这表明抑制这种酶可能对减缓疾病进展具有治疗作用。全基因组关联研究已经确定了 LRRK2 及其一个假定底物 RAB29 周围的染色体位置,是散发性 PD 终生风险的贡献因素。

目的

鉴于 LRRK2 和 RAB29 之间在遗传和蛋白质水平上的相互作用证据,我们着手确定在这两个基因缺失后,随着年龄的增长,大脑功能是否会有任何变化。

方法

我们生成了一种双基因敲除小鼠模型,并进行了一系列运动和非运动行为测试。然后,我们进行了尸检检测,以确定是否存在 PD 样病理,包括黑质多巴胺细胞计数、星形胶质细胞增生、小胶质细胞增生和纹状体单胺含量。

结果

行为上,我们只注意到 18-24 个月龄的 Rab29-/-和双(Lrrk2-/-/Rab29-/-)敲除小鼠在旷场中表现出运动行为减弱,与野生型小鼠相比。然而,在代表 PD 样病理的结果中,没有发现基因型差异。

结论

这些结果表明,至少在小鼠中,LRRK2 和 RAB29 的缺失是可以耐受的,并支持该途径可能能够安全地作为人类治疗的靶点。

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