Fraser Sean D, Klaassen Remco V, Villmann Carmen, Smit August B, Harvey Robert J
School of Health, University of the Sunshine Coast, Maroochydore, Queensland, Australia.
National PTSD Research Centre, Thompson Institute, University of the Sunshine Coast, Birtinya, Queensland, Australia.
J Neurochem. 2025 Apr;169(4):e70061. doi: 10.1111/jnc.70061.
Glycine receptors (GlyRs) are typically known for mediating inhibitory synaptic transmission within the spinal cord and brainstem, but they also have key roles in embryonic brain development, learning/memory, inflammatory pain sensitization, and rhythmic breathing. GlyR dysfunction has been implicated in multiple neurological disease states, including startle disease (GlyR α1β) and neurodevelopmental disorders (NDDs) including autism spectrum disorder (ASD), intellectual disability (ID), developmental delay (DD) and epilepsy (GlyR α2). However, GlyRs do not operate in isolation but depend upon stable and transient protein-protein interactions (PPIs) that influence synaptic localization, homeostasis, signaling pathways, and receptor function. Despite the affinity purification of GlyRs using the antagonist strychnine over four decades ago, we still have much to learn about native GlyR stoichiometry and accessory proteins. In contrast to other neurotransmitter receptors, < 20 potential GlyR interactors have been identified to date. These include some well-known proteins that are vital to inhibitory synapse function, such as the postsynaptic scaffolding protein gephyrin and the RhoGEF collybistin. However, the majority of known interactors either bind to the GlyR α1 and β subunits, or the binding partner in the GlyR complex is unknown. Several potential GlyR interactors are not found at inhibitory synapses and/or have no clear functional role. Moreover, other GlyR interactors are secondary interactors that bind indirectly, for example, via gephyrin. In this review, we provide a critical evaluation of known GlyR interacting proteins and methodological limitations to date. We also provide a road map for the use of innovative and emerging interaction proteomic techniques that will unlock the GlyR interactome. With the emergence of disease-associated missense mutations in the α1, α2 and β subunit intracellular domains in startle disease and NDDs, understanding the identity and roles of GlyR accessory proteins is vital in understanding GlyR function and dysfunction in health and disease.
甘氨酸受体(GlyRs)通常以介导脊髓和脑干内的抑制性突触传递而闻名,但它们在胚胎脑发育、学习/记忆、炎性疼痛敏化和节律性呼吸中也起着关键作用。甘氨酸受体功能障碍与多种神经疾病状态有关,包括惊吓症(GlyR α1β)和神经发育障碍(NDDs),如自闭症谱系障碍(ASD)、智力障碍(ID)、发育迟缓(DD)和癫痫(GlyR α2)。然而,甘氨酸受体并非独立发挥作用,而是依赖于稳定和瞬时的蛋白质-蛋白质相互作用(PPIs),这些相互作用会影响突触定位、稳态、信号通路和受体功能。尽管早在四十多年前就使用拮抗剂士的宁对甘氨酸受体进行了亲和纯化,但我们对天然甘氨酸受体的化学计量和辅助蛋白仍有很多需要了解的地方。与其他神经递质受体相比,迄今为止已鉴定出的潜在甘氨酸受体相互作用蛋白不到20种。这些包括一些对抑制性突触功能至关重要的知名蛋白,如突触后支架蛋白gephyrin和RhoGEF collybistin。然而,大多数已知的相互作用蛋白要么与甘氨酸受体α1和β亚基结合,要么甘氨酸受体复合物中的结合伴侣尚不清楚。几种潜在的甘氨酸受体相互作用蛋白在抑制性突触中未被发现和/或没有明确的功能作用。此外,其他甘氨酸受体相互作用蛋白是间接结合的二级相互作用蛋白,例如通过gephyrin结合。在这篇综述中,我们对迄今为止已知的甘氨酸受体相互作用蛋白和方法学局限性进行了批判性评估。我们还提供了一份路线图,介绍如何使用创新的和新兴的相互作用蛋白质组学技术来揭示甘氨酸受体相互作用组。随着惊吓症和神经发育障碍中α1、α2和β亚基细胞内结构域出现与疾病相关的错义突变,了解甘氨酸受体辅助蛋白的身份和作用对于理解健康和疾病状态下甘氨酸受体的功能及功能障碍至关重要。