The gene that is affected and causes Mucolipidosis type IV is called MCOLN1
The protein that this gene produces is mucolipin 1
The disease was first discovered in 1974 by a doctor in israel. He was studying genetic disorders when he discovered it.
The incidence rate in the world is 1 in 40,000
70% of people diagnosed with Mucolipidosis type IV have Ashkenazi Jewish ancestry.
Symptoms can include delayed development in motor and mental skills. This means that people who have this disease have difficulties executing simple tasks, such as chewing, walking, and sitting.
Blood testing and/or genetic testing can be used by doctors to find evidence of this disease.
Currently there is no treatment available for Mucolipidosis type IV. However, different kind of physical therapies can be used to attempt to treat some of the symptoms caused by the disease. These may not be effective though.
Mucolipidosis Type IV results in a greatly shortened life span. Some people have lived to ages around their 40s, but typically no longer than that.
This disease is considered autosomal recessive, meaning both parents must have a mutated gene for their child to have Mucolipidosis Type IV.
1 in 4 chance to have affected child if mother and father carry the gene.
Current research is directed by the Mucolipidosis Type IV that works closely with scientists to try to find a cure to this devastating disease.
This video shows an example of people who suffer from ML4, as well as their symptoms and how it affects their life.
Home Page. Mucolipidosis Type IV Foundation, 2015, ml4.org/. Accessed 4 Feb. 2017.
"ML4 (Mucolipidosis Type IV): A Devastating Genetic Disease." Youtube, 31 Oct. 2011, www.youtube.com/watch?v=JBodE9Sgzd8. Accessed 4 Feb. 2017.
"Mucolipidosis IV." Counsyl, Jan. 2017, www.counsyl.com/services/family-prep-screen/diseases/mucolipidosis-iv/. Accessed 4 Feb. 2017.
"Mucolipidosis Type IV." Genetics Home Reference, U.S. National Library of Medicine, 31 Jan. 2017, ghr.nlm.nih.gov/condition/mucolipidosis-type-iv#. Accessed 4 Feb. 2017.
Rosenberg, Yael. "Mucolipidosis Type IV." Jewish Genetic Diseases, MazorNet, 2012, www.mazornet.com/genetics/ml4.htm. Accessed 4 Feb. 2017.