Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies.

ABSTRACT:

Aims

Dystrophin, the protein product of the DMD gene, plays a critical role in muscle integrity by stabilising the sarcolemma during contraction and relaxation. The DMD gene is vulnerable to a variety of mutations that may cause complete loss, depletion or truncation of the protein, leading to Duchenne and Becker muscular dystrophies. Precise and reproducible dystrophin quantification is essential in characterising DMD mutations and evaluating the outcome of efforts to induce dystrophin through gene therapies. Immunofluorescence microscopy offers high sensitivity to low levels of protein expression along with confirmation of localisation, making it a critical component of quantitative dystrophin expression assays.

Methods

We have developed an automated and unbiased approach

SUBMITTER: Vetter TA 

PROVIDER: S-EPMC9184255 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature