Hunter Syndrome Genetic Disorder Research Project

Hunter Syndrome is a lysosomal storage disease known as mucopolysaccharidosis type II. It is a rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. Since their is no enzyme to break down certain substances, they build up and can become harmful which results in damage. People with Hunter Syndrome can result in their physical and mental development to progress slower, their appearance may look different, and their organ function can be affected.

A boy who is diagnosed with Hunter Syndrome.

Hunter Syndrome occurs in a gene known as iduronate 2-sulfatase. The protein that is formed from iduronate 2-sulfatase is the iduronate 2 sulfatase isoform a preoprotein.

Hunter Syndrome was first discovered by Charles Hunter who was the professor of medicine in Manitoba, Canada. He first diagnosed two brothers with it in 1917. He was able to understand how the missing enzyme resulted in materials not being able to break down.

In the United States it has been researched that approximately every 1 in 25,000 births someone will be born with Hunter Syndrome. In the world, it affects about 1 in 150,000 people. Hunter Syndrome has only occurred in males.

Hunter Syndrome is more likely to occur in males, and it is more likely to occur if the carrier of the child has an X-linked disorder.

Symptoms of Hunter Syndrome often include an enlarged tongue, a prominent forehead, slower mental development, slower physical development, joint stiffness, abdominal hernias, and some organ functions can be affected. People with Hunter Syndrome are also known to have hearing loss.

Hunter Syndrome can usually not be diagnosed at the time of birth, and children begin to show symptoms when they are between 2-4 years old. Someone can not just be diagnosed from a physical exam, but they need to see if their is a reduced amount of enzyme activity in their skin or blood cells.

Unfortunately there is no cure for Hunter Syndrome, but their is different things they can do to reduce symptoms. First, the removal of tonsils have been known to help someone with Hunter Syndrome sleep more peacefully. Also, it has been proven that is good to make sure your child is in a safe environment if they have Hunter Syndrome because it can help ease their behavior. The most recent treatment that is still in its early stages has been proven to help slow the diseases progress, and make the symptoms more bearable. This recent treatment is enzyme replacement. Enzyme replacement helps to prevent some of the symptoms of Hunter Syndrome. Lastly, another possible treatment therapy is gene replacement. It would replace the chromosome that is supposed to produce the missing enzyme, but there has not been enough research done on this treatment option to see if it could actually cure Hunters Syndrome.

If someone was diagnosed with Hunter Syndrome in their early years their prognosis would be that they would live for 10-20 years, and someone diagnosed later can live anywhere between 20-60 years. If someone was diagnosed with Hunter Syndrome a doctor would tell them to get treatment right away to hopefully try to lengthen their life.

Hunter Syndrome is a hereditary disease that is X-linked which means it has recessive inheritance.

There is different research being done on Hunter Syndrome. The research is mostly focused on trying to find a cure. There is an organization known as the Hunter Syndrome Foundation that aims to fund and find a cure for Hunter Syndrome. Right now there is a trial to try to find a cure for Hunter Syndrome. The trial puts an enzyme into the patients brain to try to cure certain cognitive symptoms of the disease.

Works Cited

How Hunter Syndrome is Passed on. Hunters Syndrome, Accessed 5 Feb. 2017.

“Hunter Syndrome.” Hunter Syndrome Foundation, 2015, Accessed 4 Feb. 2017.

“Hunter Syndrome.” Mayo Clinic, Mayo Foundation of Medical Education and Research, 2017, Accessed 1 Feb. 2017.

“iduronate 2-sulfatase isoform a preproprotein [Homo sapiens].” National Center for Biotechnology Information, 2016, Accessed 4 Feb. 2017.

“MPS ll.” National MPS Society, 2011, Accessed 30 Jan. 2017.

“Mucopolyssaccharidosis Type ll.” National Organization for Rare Disorders, 2016, Accessed 2 Feb. 2017.

The photograph is a picture of a boy who has Hunter Syndrome. SRxAs Word on Health, Accessed 5 Feb. 2017.

What are the Symptoms of Hunter Syndrome? ePain Assist, Accessed 5 Feb. 2017.

“What is Hunter Syndrome?” Youtube, 7 June 2016, Accessed 5 Feb. 2017.

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