The Biochemistry behind Hunter Syndrome

Welcome back everyone, today we'll be going over the molecular details of Hunter Syndrome and the effects it has on the body.

Connective tissue, the stuff that holds our organs and other fleshy bits together in our body, is composed of a vast network of scaffolds called the extracellular matrix. 

As with all living things, this meshwork needs to be constantly broken down and replaced to allow for continued growth. 

This is achieved by replacing molecules called proteoglycans, which function as building blocks of this framework.

Proteoglycans are broken down by enzymes in the lysosome into complex molecules called GlycosAminoGlycans, or GAGs, which are then processed further into simpler molecules.

However, in patients suffering from Hunter Syndrome, the enzyme iduronate-2-sulfatase (I2S) is either completely inactive or partially working and as a result, the body cannot properly break down two GAGs, Heparan Sulfate and Dermatan Sulfate.

Heparin Sulfate, one of the GlycosAminoGlycans involved in this nasty syndrome

Because of this, these two types of GAGs begin to accumulate in cells and interfere with other biochemical processes and bodily functions.

How does this interference affect the body though? And how serious is this disease really?

Find out in my next post.

Next up: The System-wide effects of Hunter Syndrome

-Abraham

Sources: http://www.sigmaaldrich.com/content/dam/sigma-aldrich/life-science/biochemicals/migrationbiochemicals1/heparinase_heparin.gif
http://hunterpatients.com/hunter-syndrome-basics/biochemistry/