Nerve pathology is prevented by linker proteins in mouse models for LAMA2-related muscular dystrophy.

ABSTRACT: LAMA2-related muscular dystrophy (LAMA2 MD or MDC1A) is a devastating congenital muscular dystrophy that is caused by mutations in the LAMA2 gene encoding laminin-α2, the long chain of several heterotrimeric laminins. Laminins are essential components of the extracellular matrix that interface with underlying cells. The pathology of LAMA2 MD patients is dominated by an early-onset, severe muscular dystrophy that ultimately leads to death by respiratory insufficiency. However, pathology in nonmuscle tissues has been described. Prior work in the dy^W /dy^W mouse model for LAMA2 MD has shown that two linker proteins, mini-agrin and αLNNd, when expressed in skeletal muscle fibers, greatly increase survival from a few months up to more than 2 year

SUBMITTER: Reinhard JR 

PROVIDER: S-EPMC10082391 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature