Huntingtin lowering impairs the maturation and synchronized synaptic activity of human cortical neuronal networks derived from induced pluripotent stem cells.
Mathilde LouçãDonya El AkroutiAude LemesleMorgane LouessardNoëlle DufourChloé BaroinAurore de la FouchardièreLaurent CotterHélène Jean-JacquesVirginie RedekerAnselme L PerrierPublished in: Neurobiology of disease (2024)
Despite growing descriptions of wild-type Huntingtin (wt-HTT) roles in both adult brain function and, more recently, development, several clinical trials are exploring HTT-lowering approaches that target both wt-HTT and the mutant isoform (mut-HTT) responsible for Huntington's disease (HD). This non-selective targeting is based on the autosomal dominant inheritance of HD, supporting the idea that mut-HTT exerts its harmful effects through a toxic gain-of-function or a dominant-negative mechanism. However, the precise amount of wt-HTT needed for healthy neurons in adults and during development remains unclear. In this study, we address this question by examining how wt-HTT loss affects human neuronal network formation, synaptic maturation, and homeostasis in vitro. Our findings establish a role of wt-HTT in the maturation of dendritic arborization and the acquisition of network-wide synchronized activity by human cortical neuronal networks modeled in vitro. Interestingly, the network synchronization defects only became apparent when more than two-thirds of the wt-HTT protein was depleted. Our study underscores the critical need to precisely understand wt-HTT role in neuronal health. It also emphasizes the potential risks of excessive wt-HTT loss associated with non-selective therapeutic approaches targeting both wt- and mut-HTT isoforms in HD patients.
Keyphrases
- induced pluripotent stem cells
- endothelial cells
- clinical trial
- healthcare
- end stage renal disease
- wild type
- mental health
- ejection fraction
- spinal cord
- chronic kidney disease
- randomized controlled trial
- newly diagnosed
- magnetic resonance
- spinal cord injury
- human health
- multiple sclerosis
- peritoneal dialysis
- prognostic factors
- body mass index
- young adults
- computed tomography
- health information
- pluripotent stem cells
- copy number
- weight loss
- patient reported outcomes
- subarachnoid hemorrhage
- phase ii
- placebo controlled