Study holds hope of treatment for deadly genetic disease MPS IIIB

Link: http://www.sciencedaily.com/releases/2014/09/140929180306.htm

Publication date: September 29, 2014

Source: Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed)

Summary:

Researchers have reported of finding a cure for the devastating and currently untreatable MPSIIIB disease that causes continuous damage to the brain and leads to intellectual disability and other dangerous and occasionally life threatening neurological problems. This disease is caused in the patient due to the absence of a vital enzyme that breaks down sugars called mucopolysaccharides. This absence results in their accumulation and causing progressive brain damage. Researchers have found a way of replacing the missing enzyme by injecting a modified enzyme into  the left  ventricle of the brain that is capable of reaching the brain which was not previously been able to be done due to the barriers in the enzyme’s its path. Researchers at LA BioMed, the University of California, Los Angeles and BioMarin Pharmaceutical, Inc. have already administered the modified enzyme (NAGLU) and reported that the cells readily absorbed it and that it reduced accumulation of the sugars and other metabolites to normal levels.

Relevance:

This article is relevant to the Honors Biology curriculum for this term as it is commenting and displaying the importance of enzymes and more broadly the importance of one of the most important macromolecules-protein on the human body.As studied, enzymes are biological catalysts that increase the rate of reaction without getting used up and are needed by our bodies for many different vital functions. Without enzymes as shown in the MPSIIIB disease our bodies will not function properly as it is needed to break down and synthesize certain substances which are vital to the functioning of the human body which in this case is decomposing sugars to avoid accumulation of substances that eventually cause harm. It displays the dependency of the body on enzymes and proteins to perform these vital functions that otherwise would cause problems.