Mucolipidosis IV Foundation

Welcome to the Mucolipidosis IV Foundation website at ml4.org. We hope you find our web design easy to use and the information helpful.

A mouse model and fruit fly model for MLIV has been created.

The Mouse Model

The researchers examined many tissues in the mouse and saw many of the same features of the human MLIV disease. The mouse model will allow us to study how the loss of mucolipin leads to abnormalities in the brain, and also to develop and test potential treatments.

The team was led by Dr. Susan Slaugenhaupt in the Center for Human Genetic Research at Massachusetts General Hospital and Harvard Medical School, and included investigators from the National Institutes of Health NIMH Transgenic Core Facility, Albert Einstein College of Medicine, the Massachusetts Eye and Ear Infirmary, and the University of Liverpool.

The Fruit Fly Model

Dr. Kartik Venkachalam and others in Dr. Craig Montell’s laboratory at the Johns Hopkins University School of Medicine have gained new insights into ML4 by studying a fruit fly model for the disease. Unexpectedly, this work led to the first idea for a therapy for the disease.

The key breakthrough arose from doing a standard experiment in flies, which is not typically performed in ammalian model organisms, such as the mouse.

The work from the Montell laboratory raises the exciting possibility that bone marrow transplantation (BMT) may be a therapy for ML4.

The Montell group has obtained the mouse model for ML4 from Dr. Susan Slaugenhaupt and has initiated experiments to test the idea that BMT might suppress the neurodegeneration and paralysis in this mammalian model. If so, this would potentially justify the initiation of a clinical trial to test the efficacy of BMT or “mini” transplants in human patients.