Optimized efficient screening for Duchenne muscular dystrophy carriers using proto-oncogene tyrosine-protein kinase receptor Ret.

Abstract

Introduction: Duchenne muscular dystrophy (DMD) is a severe genetic disorder affecting 5% to 19% of carriers. Creatine kinase (CK) is a traditional biomarker for DMD, but its screening accuracy is limited. This study evaluated the potential of combining the proto-oncogene tyrosine-protein kinase receptor Ret (RET) with CK-MM to enhance screening efficacy.

Methods: Creatine kinase-MM and RET levels were analyzed in 14 adult and 5 newborn carriers of DMD, along with noncarrier control individuals. The CK-MM/RET ratio was calculated, and a receiver operating characteristic curve analysis evaluated biomarker screening efficiency. Methods for extracting RET from dried blood spots (DBSs) were compared with correlations between DBSs and serum RET levels and stability under varying storage conditions.

Results: Carriers of DMD exhibited elevated CK-MM and CK-MM/RET ratios with reduced RET. The CK-MM/RET ratio had the highest screening efficiency. Extraction of RET was optimal using Diluent C at 4 °C overnight, showing a strong DBS-serum correlation; RET remained stable, except under high humidity and temperature conditions.

Discussion: Combining RET with CK-MM enhances DMD carrier screening, offering a more efficient DBS-based method for early detection.