Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.

ABSTRACT:

Background

The clinical features of myofibrillar myopathies display a wide phenotypic heterogeneity. To this date, no studies have evaluated this parameter due to the absence of pertinent animal models. By studying two mutants of desmin, which induce subtle phenotypic differences in patients, we address this issue using an animal model based on the use of adeno-associated virus (AAV) vectors carrying mutated desmin cDNA.

Methods

After preparation of the vectors, they were injected directly into the tibialis anterior muscles of C57BL/6 mice to allow expression of wild-type (WT) or mutated (R406W or E413K) desmin. Measurements of maximal force were carried out on the muscle in situ and then the injected muscles were analyzed to determine the structural consequences of the desm

SUBMITTER: Joanne P 

PROVIDER: S-EPMC3599656 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature