In a new study published in Laboratory Medicine, researchers identified a new biomarker that may significantly improve newborn screening for Duchenne muscular dystrophy (DMD) carriers. More effective methods to detect the progressive disorder can lead to earlier intervention and better reproductive decision-making for families, the study’s authors noted.
Newborn screening for DMD has been proposed for decades, and in 2024 Ohio became the first state to include the disorder in its Recommended Uniform Screening Panel, with several other states following suit.
Currently, the primary biomarker for DMD is creatine kinase (CK), which can be higher in people with the disease. Its efficacy is limited, however, since only 50% to 70% of DMD carriers exhibit increased CK activity. “Therefore, it is necessary to explore more efficient biomarkers for DMD screening,” the study’s authors wrote.
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Previous research found that proto-oncogene tyrosine-protein kinase receptor Ret (RET), a protein that plays pivotal roles in nerve and muscle function, is significantly lower in DMD carriers compared to noncarriers. Therefore, the researchers set out to see if screening for both CK and RET led to more successful DMD detection.
The study examined 14 adult female carriers and five newborn carriers of DMD, as well as age-matched noncarrier control individuals. The researchers collected serum and dried blood spot samples from the study subjects to evaluate levels of RET and CK-MM, an isoenzyme (or more specific form) of CK. The results showed that DMD carriers had significantly higher CK-MM levels and lower RET levels than controls.
“These findings suggested that screening efficiency was maximized when RET was combined with CK-MM,” the researchers wrote.
The study has its limitations, particularly its small sample size, and more research is needed to validate these findings. Researchers also need to work through optimizing methods of collecting and storing samples to detect RET levels. But the study represents an important step forward in improving early detection of DMD.
“These results provide a robust theoretical foundation supporting the clinical application of RET as a biomarker for DMD carrier screening,” the study’s authors concluded.
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