Glycogen storage disease is an inherited condition in which the enzyme glycogen synthase does not function - Scottish Highers Human Biology - Question 2 - 2015
Question 2
Glycogen storage disease is an inherited condition in which the enzyme glycogen synthase does not function.
This enzyme normally catalyses one step in the conversio... show full transcript
Worked Solution & Example Answer:Glycogen storage disease is an inherited condition in which the enzyme glycogen synthase does not function - Scottish Highers Human Biology - Question 2 - 2015
Step 1
State the term which describes a metabolic pathway in which simple molecules are built up into complex molecules.
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Answer
Anabolic synthesis.
Step 2
Describe how the genetic code for glycogen synthase might be altered in an individual with the disease.
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Answer
The genetic code may contain a different nucleotide/base or a different codon/stop codon, which results in the synthesis of an altered protein.
Step 3
Explain why this altered genetic code fails to produce glycogen synthase.
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The altered genetic code leads to the production of a protein that contains a different sequence of amino acids, causing it to be non-functional or improperly folded.
Step 4
Suggest why individuals with glycogen storage disease might develop abnormally low blood glucose levels during exercise.
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Individuals with glycogen storage disease cannot effectively convert glycogen back into glucose during exercise, leading to low blood glucose levels.
Step 5
Describe a pattern of inheritance, shown by a family history, which would indicate that the condition is recessive.
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In a recessive inheritance pattern, affected individuals often have unaffected parents who are carriers. This means two copies of the recessive allele are needed for the individual to show the trait.
Step 6
Describe a pattern of inheritance, shown by a family history, which would indicate that the condition is sex-linked.
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For sex-linked inheritance, affected males cannot pass the condition onto their sons but can pass it to their daughters, who may become carriers. Females can only be affected if they inherit the allele from both parents.
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