GLUT1 is a glucose transporter that is responsible for the facilitated diffusion of glucose across the blood-brain barrier. GLUT1 deficiency syndrome is a rare genetic disorder where mutations in the gene encoding GLUT1 reduce or eliminate the function of the GLUT1 protein. Affected individuals suffer from seizures along with a number of potential neurological problems. What is the link between GLUT1 dysfunction and these neurological complications? a) Excessive and constant diffusion of glucose from the blood to the brain b) Sporadic and uncontrolled diffusion of glucose from the blood to the brain c) Diffusion of glucose from the brain to the blood d) Insufficient diffusion of glucose from the blood to the brain

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Answer:

The correct option is (D). GLUT1 deficiency syndrome belongs to the category of autosomal dominant disease. This genetic disorder limits the transport of glucose to the brain as the aforementioned proteins helps in the process.

Explanation:

A separating membrane is formed in between the blood and the brain and also the extracellular fluid of the central nervous system that is more specifically known as the blood-brain barrier. Some of its major functions include restriction of the passage of the antigen or pathogen, solute diffusion in the blood. The protein GLUT1  helps in the glucose transportation in the brain as it is able to cross the blood-brain barrier. The associated gene resides on chromosome number 1 is called SLC2A1 gene.  

Mutation in this gene leads to less or no production of the protein and hence the glucose transport process to the brain is hampered. This affects the normal functioning of the brain as glucose is the major fuel for the brain.

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