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Biology subjects

Sephton, C.

Publications and source records attributed to Sephton, C..

2 recordsLinked to original sources

Axon-specific mRNA translation shapes dopaminergic circuit development

The precise organization of midbrain dopaminergic (mDA) projections is essential for motor and cognitive functions, and their disruption contributes to multiple brain disorders. Yet the molecular mechanism guiding the development of these projections remains poorly defined. Here, we used ribosome tagging (RiboTag) and specific mouse crossing strategies (DATIRES-Cre mice) to isolate ribosome-bound mRNAs specifically from mDA axons and to analyze their axonal translatomes across developmental stages. We found that early-stage axons are enriched in transcripts involved in axon guidance and growth, while mature axons predominantly translate mRNAs related to synaptic function. Among key candidates, we identified PlxnA4, which is locally translated into mDA axons and modulates arborization in response to Sema3a. Functional assays in vitro and in vivo revealed that Plxna4-mediated signaling regulates topographical axon targeting and innervation, particularly in the nigrostriatal pathway. Our results uncover a dynamic and compartment-specific regulation of mRNA translation in developing mDA neurons, offering mechanistic insight into circuit formation and providing new molecular targets to improve integration of grafted neurons in regenerative therapies for Parkinsons disease.

developmental biology↗

Widespread alterations in microRNA biogenesis in human Huntington's disease putamen

Altered microRNA (miRNA) expression is a common feature of Huntingtons disease (HD) and could participate in disease onset and progression. However, little is known about the underlying causes of miRNA disruption in HD. We and others have previously shown that mutant Huntingtin (mHTT) binds to Ago2, a central component of miRNA biogenesis, and disrupts mature miRNA levels. In this study, we sought to determine if miRNA maturation per se was compromised in HD. Towards this end, we characterized t major miRNA biogenesis pathway components and miRNA maturation products (pri-miRNA, pre-miRNA, and mature) in human HD (N=41, Vonsattel grades HD2-4) and healthy control (N=25) subjects. Notably, the striatum (putamen) and cortex (BA39) from the same individuals were analyzed in parallel. We show that Ago2, Drosha, and Dicer were strongly downregulated in human HD at early stages of disease. Using a panel of HD-related miRNAs (miR-10b, miR-196b, miR-132, miR-212, miR-127, miR-128), we uncovered various types of maturation defects in HD brain, the most prominent occurring at the pre-miRNA to mature miRNA maturation step. Consistent with earlier findings, we provide evidence that alterations in autophagy could participate in miRNA maturation defects. Notably, most changes occurred in the striatum, which is more prone to HTT aggregation and neurodegeneration. Likewise, we observed no significant alterations in miRNA biogenesis in human HD cortex and blood, strengthening tissue-specific effects. Overall, these data provide important clues into the underlying mechanisms behind miRNA alterations in HD-susceptible tissues. Further investigations are now required to understand the biological, diagnostic, and therapeutic implications of miRNA/RNAi biogenesis defects in HD and related neurodegenerative disorders.

neuroscience↗