Cell autonomous requirement of neurofibromin (Nf1) for postnatal muscle hypertrophic growth and metabolic homeostasis.

ABSTRACT:

Background

Neurofibromatosis type 1 (NF1) is a multi-organ disease caused by mutations in neurofibromin 1 (NF1). Amongst other features, NF1 patients frequently show reduced muscle mass and strength, impairing patients' mobility and increasing the risk of fall. The role of Nf1 in muscle and the cause for the NF1-associated myopathy are mostly unknown.

Methods

To dissect the function of Nf1 in muscle, we created muscle-specific knockout mouse models for NF1, inactivating Nf1 in the prenatal myogenic lineage either under the Lbx1 promoter or under the Myf5 promoter. Mice were analysed during prenatal and postnatal myogenesis and muscle growth.

Results

Nf1^Lbx1 and Nf1^Myf5 animals showed only mild defects in prenatal myogenesis. Nf1^Lbx1 an

SUBMITTER: Wei X 

PROVIDER: S-EPMC7749575 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature