..................colour my world

Thursday, May 11, 2006

a little story about a little enzyme

Here’s a little story about a little enzyme

You might require a little background in biochemistry to fully catch the gist of what I’m about to say.

G6PD deficiency. A common enzyme deficiency that is a genetic sex-linked recessive disorder. Meaning that more males are affected than females, and that the disorder only presents in a female when she has both recessive genes from her parents, and presents always in a male if he has even only one of the recessive genes.

People with G6PD have a shortage of the enzyme Glucose 6-Phosphate Dehydrogenase. An enzyme that is the major rate-limiting regulator of the Pentose Phosphate Cycle. Its starting substrate is glucose 6-phosphate from hexokinase, and through the oxidative pathway, carbons are returned to glycolysis at fructose 6-phosphate and glyceraldehydes 3-phosphate. The oxidative phase of the pathway generates reducing power in the form of NADPH, which is essential for detoxification within the body and is used in reductive synthesis, such as the synthesis of fatty acids, cholesterol and in fatty acid elongation.
Foods such as broad beans contain many oxidants, G6PD sufferers often cannot consume such foods because in states of oxidative stress, stress is placed on the pentose phosphate pathway through the usage of glutathione and the enzyme glucose 6-phosphate dehyrdogenase cannot keep up. This may even lead to renal failure.

The interesting thing about G6PD is that it has a positive link with malaria the same way sickle cell anemia has. So people with G6PD deficiency are less likely to suffer from malaria than those without. This is probably why this recessive disease has not died out over the centuries since sufferers have a distinct evolutionary advantage in malaria prone countries.

Its amazing to see biochemistry and genetics play out in real life!
What ive studied in genetics in Vet102 and biochem in Vet241 isnt just on paper!

However, don’t take my word on all the facts presented above, some are from my notes, some from my understanding and some are from other external sources.

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