Question

1) Explain why elevated blood creatine kinase levels are a good proteomic marker for Duchenne muscular dystrophy.

2) What is a disadvantage of the genomic assay(PCR deletion screen in Duchenne muscular dystrophy)?

3) If you were to do transcriptomics on a patient of Duchenne muscular dystrophy, where would you get the sample and what result would you expect?

Answer 1

1. High level of creatine Kinase in the blood indicates muscle damage due to muscular dystrophy, since this enzyme is normally present in muscles. Therefore presence of high level of creatine kinase in the blood is a useful marker for Duchenne muscular dystrophy.

2. Duchenne muscular dystrophy results mainly due to deletion or insertion mutations in the DMD gene. Multiplex PCR has been commonly used to detect the disease, but the main disadvantage of this technique is that, it detects deletion mutation only in 20-30 exons, out of a total of 79 exons, also, it fails to detect other mutations that can be responsible in causing the disease.

3. Human skeletal muscle from Duchenne muscular dystrophy patient can act as sample for transcriptomic studies. A comparative study can be done by including a non-dystrophic control. The results obtained will be altered biological function due to differentially expressed genes. Degeneration and regeneration process can be observed which are important indication of the disease. Also, identification of such genes can help in finding prognostic biomarkers which will enhance diagnostic process.