Dr. Verybad has discovered a new neurodegenerative disease (Verybad disease, VBD

Question

Dr. Verybad has discovered a new neurodegenerative disease (Verybad disease, VBD). The disease starts as headaches and muscle weakness and progresses to cognitive impairment, loss of muscle control, and death. The cause of the disease is currently unknown and there is no treatment. Dr. Verybad has a hypothesis that this is the result of a mutation in a gene located on the X chromosome called Dont Touch This gene 1 (Dtt1). Dr. Verybad wants to sequence the gene to determine if there is a mutation in Dtt1 responsible for the pathogenesis of VBD.

1- If there is a mutation within an exon, what might this mutation be affecting? Propose 1 experiment to investigate this possibility. Explain the protocol, controls, and expected results.

2-If there is a mutation in the 3 Untranslated region (3 UTR), what might this mutation be affecting?     Propose 1 experiment to investigate this possibility. Explain the protocol, controls, and expected results.

Explanation / Answer

1. since its exon, protein formed would not be functional.

We can take cells from muscle cells and compare the signalling between normal and defected cell or we can compare the proteins formed from mRNA of both these cells.

2. Since 3' UTR region controls post transcriptional modifications, it might affect the proper protein folding. They also contain silencer regions which inhibit mRNA translation. So can even increase or stop protein formation.

We will again use the knowledge for proteomics here.

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