Someone with a helicase enzyme defect needs therapy How woul

Someone with a helicase enzyme defect needs therapy. How would you design a therapy for the patient?

Part A: Specifically, what experiments would you use to study the helicase defect?

Part B: How would this mutation impact DNA replication in the patient?

Solution

Answer: DNA helicase are the enzymatic protein used in process of DNA replication. It convert duplex DNA to single stranded. Helicases also play essential roles during DNA repair and recombination as well as RNA transcription and are found in virtually all cells.

Verification of DNA helicase activity is completed by using an assay that reveals the conversion of double stranded DNA (dsDNA) into two single strands. The most common assay measures the release of a 32P-labeled oligonucleotide annealed to a larger ssDNA molecule, such as <|)X174 or Ml 3 viral DNA The radioactive substrate and product molecules differ greatly in size so that native gel electrophoresis of the reactive mixture quickly reveals helicase activity. Thus, The fluorescence based helicase assay test are used to study the helicase defect.

Answer B: Helicase mutations lead to cellular dysfunction and disease phenotypes, molecular defects are responsible for aberrant genomic stability and a poor DNA damage response.The expression of the mutant helicase protein potentially interferes with normal DNA metabolism and has an effect on basic cellular processes such as DNA replication, the DNA damage response and protein trafficking.