Conditional inactivation of Nf1 and pten in schwann cells results in abnormal neuromuscular junction maturation

Xiao Xiao Li, Shi Jie Zhang, Amy P. Chiu, Lilian H. Lo, Jeffery C. To, He Ning Cui, Dewi K. Rowlands, Vincent W. Keng (Corresponding Author)

Research output: Journal article publicationJournal articleAcademic researchpeer-review

2 Citations (Scopus)


The neuromuscular junction (NMJ) consists of three components, namely presynaptic motor neurons, postsynaptic muscle fibers and perisynaptic Schwann cells (PSCs). The role of Schwann cells (SCs) in regulating NMJ structural and functional development remains unclear. In this study, mice with conditional inactivation of neurofibromin 1 (Nf1) and phosphatase and tensin homolog (Pten), specifically in SCs, resulted in delayed NMJ maturation that led to delayed muscle growth, recapitulating the muscular dystrophy condition observed in human neurofibromatosis type I syndrome (NF1) patients. Expression levels of NMJ development related molecules such as cholinergic receptor, nicotinic, alpha polypeptide 1 (Chrna1), agrin (Agrn), dystrophin, muscular dystrophy (Dmd), laminin, beta 2 (Lamb2) and dystroglycan 1 (Dag1) were also downregulated. To further explore the molecular alterations in these SCs, NF1- and PTEN-related pathways were analyzed in mutant sciatic nerves. As expected, hyperactive RAS/PI3K/AKT/ mTOR signaling pathways were identified, suggesting the importance of these pathways for NMJ development, and subsequent muscle maturation.

Original languageEnglish
Pages (from-to)297-303
Number of pages7
JournalG3: Genes, Genomes, Genetics
Issue number1
Publication statusPublished - 1 Jan 2019


  • junction
  • Neurofibromin 1
  • neuromuscular
  • phosphatase and
  • Schwann cell
  • tensin homolog

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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