Hurle Syndrome Research Paper

Introduction: Hurler Syndrome (MPS-I), otherwise classified as Mucopolysaccharidosis, is the most severe form of this disease and is caused by cells being unable to break down dermatan sulfate and heparan sulfate during regular metabolism(Laberge, 2010). The build up of these two by-products disturbs regular cell functionality and this may cause damage within the tissues of organs (Laberge, 2010). Two major symptoms found within an individual with Hurler Syndrome are skeletal deformities and a slow development in motor and intellectual skills (Laberge, 2010). Hurler Syndrome is indistinguishable at birth (Laberge, 2010) . However, symptoms are developed between six to eight months after birth (Laberge, 2010). Other smaller symptoms shown
The gene that is responsible for causing Hurler Syndrome is on 4p16.3 site on chromosome 4 (Beesley, 2008). This gene is called iduronidase enzyme, otherwise known as IDUA (Beesley, 2008). IDUA is a type of gene that provides instructions on producing the enzyme alpha-L-iduronidase in order to break down glycosaminoglycans (GAGs) (Beesley, 2008). Generally, mutations reduce the production of this enzyme and increases GAGs within the lysosome cells (Beesley, 2008). Hurler Syndrome is an autosomal recessive disorder and is only expressed when an individual inherits two copies of the IDUA gene (Laberge, 2010). This disorder within the gene can be passed down to the next generation when a person has one mutated copy and a normal copy (Laberge, 2010). People that carry one IDUA gene produce less alpha-L-iduronidase enzyme than individuals with two genes (Laberge, 2010). However, this is enough to avoid Hurler Syndrome from developing (Laberge, 2010). It is estimated that about 0.7-1.6/100,000 people may be born with Hurler Syndrome (Laberge, 2010). Hurler Syndrome are most commonly caused by point mutations where only one change occurs with a sequence of nucleotides found within a gene (Keeling et al., 2001). Insertion and deletions of specific nucleotides affect the reading frame of codons within the gene (Keeling et al., 2001). The most commonly found mutation is a nonsense mutation where a single base pair or nucleotide is expressed at a premature stop codon (Keeling et al., 2001). The final result of the enzyme during translation does not fold and coil properly resulting in nonfunctional enzyme (Keeling et al., 2001). This all takes place from base pair 986,997 to base pairs 1,004,557 found on the short arm of the chromosome (Beesley, 2008). While the gene must contain 17 exons in order to function properly (Beesley,