What does the IDUA gene do?
The IDUA gene provides instructions for producing an enzyme called alpha-L-iduronidase, which is essential for the breakdown of large sugar molecules called glycosaminoglycans (GAGs).
Where is the IDUA gene located?
Researchers believe that the accumulated GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt the movement of molecules inside the cell. The IDUA gene is found on chromosome 4 (https://medlineplus.gov/genetics/chromoso me/4/).
How does Alpha-L-Iduronidase work?
Alpha-L-iduronidase specifically acts by removing an α-L-iduronyl residue (Image 1) from the nonreducing ends of heparan sulfate and dermatan sulfate (Image 2). The idoA released is a hexopyranose sugar, and this degradation pathway is important for recycling and redirection of materials in the cell2.
What is Iduronate 2-sulfatase?
Function. Iduronate 2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked mucopolysaccharidosis type II, also known as Hunter syndrome.
How is Aldurazyme made?
The active substance in Aldurazyme, laronidase, is a copy of the human enzyme α L iduronidase. It is produced by a method known as ‘recombinant DNA technology’: the enzyme is made by cells into which a gene (DNA) has been introduced that makes them able to produce laronidase.
What is Hurler syndrome caused by?
Hurler syndrome is caused by a variation in the IDUA gene, which contains the instructions for the production of a specific enzyme known as alpha-L-iduronidase. This specialized protein is normally found in the lysosomes of cells, where it helps to break down complex sugars called glycosaminoglycans (GAGs).
What are the symptoms of Hunter syndrome?
Signs and symptoms may include:
- An enlarged head.
- Thickening of the lips.
- A broad nose and flared nostrils.
- A protruding tongue.
- A deep, hoarse voice.
- Abnormal bone size or shape and other skeletal irregularities.
- A distended abdomen, as a result of enlarged internal organs.
- Chronic diarrhea.
What does Iduronate-2-sulfatase break down?
The IDS gene provides instructions for producing an enzyme called iduronate 2-sulfatase (I2S), which is essential for the breakdown of large sugar molecules called glycosaminoglycans (GAGs).
What is Aldurazyme used for?
About Aldurazyme LARONIDASE is a drug that is used to replace an enzyme that is missing in patients with some forms of mucopolysaccharidosis I (MPS I). It is used to treat some of the symptoms of the disease. This medicine is not a cure.
What does Aldurazyme treat?
Aldurazyme (laronidase) is an enzyme used to treat some of the symptoms of a genetic condition called Hurler syndrome (also called mucopolysaccharidosis). Aldurazyme may improve breathing and walking ability in people with this condition.