Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway.
Yu GuoMinjie ShenQiping DongNatasha M Méndez-AlbeloSabrina X HuangCarissa L SiroisJonathan LeMeng LiEzra D JarzembowskiKeegan A SchoellerMichael E StocktonVanessa L HornerAndré M M SousaYu Gaonull nullJon E LevineDaifeng WangQiang ChangXinyu ZhaoPublished in: Nature communications (2023)
Fragile X messenger ribonucleoprotein 1 protein (FMRP) binds many mRNA targets in the brain. The contribution of these targets to fragile X syndrome (FXS) and related autism spectrum disorder (ASD) remains unclear. Here, we show that FMRP deficiency leads to elevated microtubule-associated protein 1B (MAP1B) in developing human and non-human primate cortical neurons. Targeted MAP1B gene activation in healthy human neurons or MAP1B gene triplication in ASD patient-derived neurons inhibit morphological and physiological maturation. Activation of Map1b in adult male mouse prefrontal cortex excitatory neurons impairs social behaviors. We show that elevated MAP1B sequesters components of autophagy and reduces autophagosome formation. Both MAP1B knockdown and autophagy activation rescue deficits of both ASD and FXS patients' neurons and FMRP-deficient neurons in ex vivo human brain tissue. Our study demonstrates conserved FMRP regulation of MAP1B in primate neurons and establishes a causal link between MAP1B elevation and deficits of FXS and ASD.
Keyphrases
- autism spectrum disorder
- endothelial cells
- spinal cord
- high density
- attention deficit hyperactivity disorder
- cell death
- intellectual disability
- induced pluripotent stem cells
- traumatic brain injury
- pluripotent stem cells
- end stage renal disease
- healthcare
- endoplasmic reticulum stress
- oxidative stress
- signaling pathway
- genome wide
- chronic kidney disease
- gene expression
- copy number
- dna methylation
- blood brain barrier
- ejection fraction
- prognostic factors
- case report