NGS

In the last blog update, we discussed on Mucopolysaccharidoses (MPS) Disease series with MPS Type III, also known as Sanfilippo Syndrome. In today’s blog, we continue the series with the next variation of the disease; MPS Type IV. MPS Type IV is also known as Morquio syndrome. This metabolic condition is very rare to happen, in which the body cannot break down the GAGs chain, causing it to accumulate in lysosome cells and can be inherited in an autosomal recessive manner. MPS type IV is divided into two forms such as type A and type B. Type A is mainly […]

In the previous blog post, we have discussed on MPS Type II diseases, which gene is getting mutated and how the mutation affects the human body. We also talked about the symptoms for MPS Type II. Now, we will touch on MPS Type III. MPS III also known as Sanfilippo Syndrome causes the body unable to break down GAG mainly heparan sulfate which can lead to deterioration of neurological function. Sanfilippo syndrome is usually inherited in an autosomal recessive manner and mainly affects the brain and central nervous system. Types III-A, III-B, III-C, and III-D of MPS III are distinguishable […]

On the previous blog post, we discussed on what Mucopolysaccharidoses Disease (MPS) is and how genetics play an important role for the disease. We also touched upon Type 1 of the MPS disease, what genes are involved and how the mutation cause changes to the human body. This week, we will talk about MPS Type II diseases. Different from type I, MPS type II is mainly affecting the IDS gene which caused the lack of IDS enzyme also known as iduronate 2-sulfatase (I2S). This enzyme is very important in the breakdown of large sugar molecules such as GAGs. This condition […]