Caveolin-3 loss linked with the P104L LGMD-1C mutation modulates skeletal muscle mTORC1 signalling and cholesterol homeostasis.

ABSTRACT:

Background

Caveolins are the principal structural components of plasma membrane caveolae. Dominant pathogenic mutations in the muscle-specific caveolin-3 (Cav3) gene isoform, such as the limb girdle muscular dystrophy type 1C (LGMD-1C) P104L mutation, result in dramatic loss of the Cav3 protein and pathophysiological muscle weakness/wasting. We hypothesize that such muscle degeneration may be linked to disturbances in signalling events that impact protein turnover. Herein, we report studies assessing the effects of Cav3 deficiency on mammalian or mechanistic target of rapamycin complex 1 (mTORC1) signalling in skeletal muscle cells.

Methods

L6 myoblasts were stably transfected with Cav3^P104L or expression of native Cav3 was abolished by CRISPR/Cas9 genome editing

SUBMITTER: Shah DS 

PROVIDER: S-EPMC10570080 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature