Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.

ABSTRACT:

Background

Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degeneration. Frizzled related protein (FRZB), upregulated in LGMDR1, was identified as a key regulator of the crosstalk between Wnt and integrin signalling pathways. FRZB gene silencing showed a recovery in the expression of some of the costamere protein levels in myotubes.

Results

Here, we performed a comprehensive characterization of Frzb^-/- mice muscles to study the absence of Frzb in skeletal muscle and eventual links with the molecular characteristics of LGMDR1 patient muscles. Frzb^-/- mice showed reduced muscle size and strength. Gait

SUBMITTER: Casas-Fraile L 

PROVIDER: S-EPMC7245871 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature