Syndrome H is an inherited condition. People with syndrome H do not produce the enzyme IDUA. Figure 3 shows part of the gene coding for the enzyme IDUA. Strand K shows a mutation in the DNA which has caused syndrome H. The enzyme IDUA helps to break down a carbohydrate in the human body. The enzyme IDUA produced from Strand K will not work. Explain how the mutation could cause the enzyme not to work – 7073

One thought on “Syndrome H is an inherited condition. People with syndrome H do not produce the enzyme IDUA. Figure 3 shows part of the gene coding for the enzyme IDUA. Strand K shows a mutation in the DNA which has caused syndrome H. The enzyme IDUA helps to break down a carbohydrate in the human body. The enzyme IDUA produced from Strand K will not work. Explain how the mutation could cause the enzyme not to work – 7073”

1. A mutation changes the DNA base from C to T (e.g. CAG to TAG).
   This changes the amino acid.
   The protein may change.
   The protein (enzyme) has a different shape or active site.
   So the enzyme can’t bind to the substrate (e.g. carbohydrate) anymore.

   Reply