Mucopolysaccharidosis Type VI
Causes
What gene change causes Mucopolysaccharidosis Type VI?
Mucopolysaccharidosis Type VI (MPS VI) is caused by genetic changes in the ARSB gene. These changes in ARSB prevent normal production of an enzyme called arylsulfatase B in the body. This lack of arylsulfatase B causes the buildup of glycosaminoglycans (GAGs) in different parts of the body, which is what creates health problems for people with MPS VI. GAGs were originally called mucopolysaccharides, which is where this condition gets its name. There are several other types of MPS disorders caused by different genes. Only changes in ARSB cause MPS VI.
References
- http://www.omim.org/entry/253200?search=mps%20VI&highlight=vi%20mp
- Genetics Home Reference - https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi#genes
More Causes Content
What happens because of that gene change in Mucopolysaccharidosis Type VI?
Does anything make Mucopolysaccharidosis Type VI worse?
Is this a predisposition or a cause for Mucopolysaccharidosis Type VI?
What happens because of that gene change in Mucopolysaccharidosis Type VI?
Genetic changes in the ARSB gene prevent normal production of an enzyme called arylsulfatase B in the body. Arylsulfatase B normally breaks up large sugar molecules called glycosaminoglycans (GAGs) in different parts of the body. When arylsulfatase B isn't working properly or there isn't enough enzyme, GAGs start to build up in the cells. This problem with the storage of GAGs causes health problems for people with Mucopolysaccharidosis Type VI (MPS VI). The buildup of GAGs in cells increases their size, which is why many types of tissue and organs are enlarged in people who are affected by MPS VI. Researchers believe that too many GAGs may also interfere with the normal functioning of cells and cause cell damage and death.
References
- http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi
Does anything make Mucopolysaccharidosis Type VI worse?
As of December 21st, 2015, there are no known environmental, pharmaceutical, or other factors that may make this condition more severe.
References
- http://www.omim.org/entry/253200?search=mps%20VI&highlight=vi%20mp
- http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi
- http://www.ojrd.com/content/5/1/5
Is this a predisposition or a cause for Mucopolysaccharidosis Type VI?
Genetic changes in the ARSB gene are the cause of Mucopolysaccharidosis Type VI.
References
- http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi
