There are a number of mitochondrial disorders that affect
people with mutations related to enzymes for...
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Biology
There are a number of mitochondrial disorders that affectpeople with mutations related to enzymes for the Citric acid cycle,for example:
â–ª Fumerase deficiency
â–ª Mutations in SUCLA2
â–ª Mutations in SUCLG1
â–ª Alpha-ketoglutarate dehydrogenase deficiency
o Pick one of these disorders, search the WWW for informationon it, and write a paragraph (at least 100 words) in your own wordsanswering the following questions:
â–ª What enzyme is affected by the mutation?
â–ª Where in the Citric Acid cycle is this enzyme used?
â–ª What effect does it have on respiration in the cells?
â–ª What symptoms does it produce in the body?
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Ans Fumarase Deficiency Mutations in the FH gene cause fumarase deficiency The enzyme known as fumarase provides the body with guidelines to help cells use oxygen and build energy Gene mutations affect the function of the enzyme The creation of energy in cells during brain development is particularly important therefore when the enzyme is inappropriate the brain is poorly developed
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