Bou Dib Peter, Gnägi Bettina, Daly Fiona, Sabado Virginie, Tas Damla, Glauser Dominique A, Meister Peter, Nagoshi Emi
Institute of Cell Biology, University of Bern, Bern, Switzerland; Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland.
Institute of Cell Biology, University of Bern, Bern, Switzerland.
PLoS Genet. 2014 Oct 23;10(10):e1004718. doi: 10.1371/journal.pgen.1004718. eCollection 2014 Oct.
Parkinson's disease (PD) is the most common neurodegenerative movement disorder characterized by the progressive loss of dopaminergic (DA) neurons. Both environmental and genetic factors are thought to contribute to the pathogenesis of PD. Although several genes linked to rare familial PD have been identified, endogenous risk factors for sporadic PD, which account for the majority of PD cases, remain largely unknown. Genome-wide association studies have identified many single nucleotide polymorphisms associated with sporadic PD in neurodevelopmental genes including the transcription factor p48/ptf1a. Here we investigate whether p48 plays a role in the survival of DA neurons in Drosophila melanogaster and Caenorhabditis elegans. We show that a Drosophila p48 homolog, 48-related-2 (Fer2), is expressed in and required for the development and survival of DA neurons in the protocerebral anterior medial (PAM) cluster. Loss of Fer2 expression in adulthood causes progressive PAM neuron degeneration in aging flies along with mitochondrial dysfunction and elevated reactive oxygen species (ROS) production, leading to the progressive locomotor deficits. The oxidative stress challenge upregulates Fer2 expression and exacerbates the PAM neuron degeneration in Fer2 loss-of-function mutants. hlh-13, the worm homolog of p48, is also expressed in DA neurons. Unlike the fly counterpart, hlh-13 loss-of-function does not impair development or survival of DA neurons under normal growth conditions. Yet, similar to Fer2, hlh-13 expression is upregulated upon an acute oxidative challenge and is required for the survival of DA neurons under oxidative stress in adult worms. Taken together, our results indicate that p48 homologs share a role in protecting DA neurons from oxidative stress and degeneration, and suggest that loss-of-function of p48 homologs in flies and worms provides novel tools to study gene-environmental interactions affecting DA neuron survival.
帕金森病(PD)是最常见的神经退行性运动障碍,其特征是多巴胺能(DA)神经元逐渐丧失。环境和遗传因素都被认为与PD的发病机制有关。尽管已经鉴定出几个与罕见家族性PD相关的基因,但占PD病例大多数的散发性PD的内源性危险因素仍然 largely未知。全基因组关联研究已经在包括转录因子p48/ptf1a在内的神经发育基因中鉴定出许多与散发性PD相关的单核苷酸多态性。在这里,我们研究p48是否在果蝇和秀丽隐杆线虫的DA神经元存活中发挥作用。我们表明,果蝇p48同源物48-related-2(Fer2)在原脑前内侧(PAM)簇中的DA神经元发育和存活中表达并发挥作用。成年期Fer2表达缺失会导致衰老果蝇中PAM神经元逐渐退化,同时伴有线粒体功能障碍和活性氧(ROS)产生增加,导致进行性运动功能缺陷。氧化应激刺激会上调Fer2表达,并加剧Fer2功能丧失突变体中的PAM神经元退化。hlh-13是p48的线虫同源物,也在DA神经元中表达。与果蝇对应物不同,hlh-13功能丧失在正常生长条件下不会损害DA神经元的发育或存活。然而,与Fer2类似,hlh-13表达在急性氧化应激刺激后会上调,并且在成年线虫氧化应激下DA神经元的存活中是必需的。综上所述,我们的结果表明,p48同源物在保护DA神经元免受氧化应激和退化方面具有共同作用,并表明果蝇和线虫中p48同源物的功能丧失为研究影响DA神经元存活的基因-环境相互作用提供了新工具。