A new combination of biomarkers to detect DMD female carriers

Chinese researchers have studied ways of improving screening for women with Duchenne muscular dystrophy (DMD):

• apart from DMD gene genotyping, creatine phosphokinase (CPKEnzyme contenue dans les cellules musculaires, qui est libérée dans le sang en cas d’atteinte musculaire.) blood testing has until now been the only simple and cheap biomarker,
• because of the large number of false negatives with this method, the value of other biomarkers has been explored,
• in particular the MM fraction of CPK (CPK-MM) and the receptor for a proto-oncogenic tyrosine kinase (RET),
• the combination of the two biomarkers in the form of a ratio has increased specificity from 70% to 93%.

This promising method can be performed on samples collected on blotting paper.

Creatine Kinase-MM/Proto-oncogene Tyrosine-Protein Kinase Receptor as a Sensitive Indicator for Duchenne Muscular Dystrophy Carriers. Zhang Z, Hong D, Ma D et al. Mol Neurobiol. 2024 May 20.