What is mucolipidosis IV?
Mucolipidosis IV is a rare genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Because of a change in a specific gene, people with mucolipidosis IV lack a protein. This protein is called mucolipin-1 and is found in the membrane of endosomes and lysosomes. Endosomes are compartments within certain cells that break down (degrade) substances that are carried to lysosomes. Lysosomes are found in almost every type of cell in the body and are the primary digestive unit of a cell. They break down different substances within the cell and recycle them. Researchers aren't sure what mucolipin-1 does, but it is critical for the proper function of endosomes and lysosomes. Because lysosomes can't function properly, the substances they are supposed to break down start to build up. Eventually this damages the affected area and organs. People with mucolipidosis IV have problems with the brain including intellectual disability, the eyes including vision loss, and the kidneys including kidney failure. Some people have atypical mucolipidosis IV, which is a less severe form. Mucolipidosis IV is caused by changes in a gene called MCOLN1. Most people live well into adulthood.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/mucolipidosis-iv/overview/56159 • DATE UPDATED: 2016-12-15
Mucolipidosis type IV. Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv#
Schiffmann R, Grishchuk Y, Goldin E. Mucolipidosis IV. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1214/
Mucolipidosis IV. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/mucolipidosis-iv/