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A genetic mutation in John led to a production of dysfunctional 3-ketosphinganine synthase in this body....

A genetic mutation in John led to a production of dysfunctional 3-ketosphinganine synthase in this body. Anticipate four (4) complications or disorders that arise from this mutation.   (4 marks)

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Answer #1

3-ketosphinganine synthase dysfunction can lead to many complications including:

Obesity induced insulin resistance and diabetes mellitus. Many studies have confirmed the pathogenesis of mutated Sphingolipid in diabetes mellitus. This may be because the free fatty acid depends on Sphingolipid pathways for the production of energy.

Variations in arterial blood pressure. The studies are conducted on mutated mice.

Chronic kidney disease, studies indicate that Sphingolipid have role in regulation of kidney function. Ceramide contribute to chronic glomerular injury associated with obesity.

Atherosclerosis, obesity induced inflammation is implicated in increased risk or coronary artery disease including atherosclerosis.

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