Researchers at the Massachusetts General Hospital Research Institute and the Georgia Institute of Technology are investigating a medication currently approved to treat a type of multiple sclerosis as a possible treatment for mucolipidosis IV. The research is currently at an early stage. The full article can be read here, at Georgia Tech Research Horizons.

Mucolipidosis IV is a genetic metabolic disorder that is estimated to affect 1 in 40,000 people. It is caused by mutations in the MCOLN1 gene. There are two forms of the condition; one known as ‘typical’, that approximately 95% of people affected have, and another called  ‘atypical’, which is much less common. Symptoms of mucolipidosis IV tend to appear soon after birth at around three to eight months. The first sign of the condition is often clouding in the eye or unusual eye movements, and these may go unnoticed. Other symptoms that may develop include reduced muscle tone and coordination, intellectual disability, delays reaching developmental milestones, and eye problems. The effects of the disease worsen over time. Currently, there are limited treatment options available for patients.

The recent study, which was published in Human Molecular Genetics, has found that a medicine called fingolimod currently approved by the US Food and Drug Administration for treating a form of multiple sclerosis may be applicable to mucolipidosis IV. This is based on the successful use of fingolimod on lab cultures (in vitro) of cells taken from the brains of mice that show the effects of mucolipidosis IV.

Mucolipidosis IV is understood to affect brain cells known as glial cells. During the study, researchers observed that one type of star-shaped glial cell, called astrocytes, were behaving abnormally. Astrocytes are involved in the immune system, but in the samples being studied, they were linked to inflammation. This is similar to how astrocytes can behave in multiple sclerosis (MS), and so the researchers went on to test the medicine fingolimod, known to act on MS astrocytes, to find out whether a similar effect could be achieved in the lab cultures.

It was found to successfully reduce the abnormal behaviour of the astrocytes in the lab. Following these encouraging results, the researchers are hoping to carry out similar tests on living mice models of mucolipidosis IV. This research suggests that fingolimod may be helpful for treating mucolipidosis IV. However, it has not yet been tested on human cells with the condition and much more research needs to be done into its effects to better understand its safety and efficacy.

The authors of the study wrote, “These data suggest that fingolimod is a promising candidate for preclinical evaluation in our MLIV mouse model, which, in case of success, can be rapidly translated into clinical trial.”

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