Muscle-eye-brain disease (MEB) is a degenerative muscle condition, a type of congenital muscular dystrophy. It affects the skeletal muscles, hinders brain development, and causes vision abnormalities.

The alpha-dystroglycan protein

MEB is a dystroglycanopathy, a disorder caused by the improper functioning of the alpha-dystroglycan protein.

Alpha-dystroglycan plays a vital role in the muscles that control movement (skeletal muscles) and the brain. It provides support and stabilizes the skeletal muscle fibers, helping them maintain their structure and aiding proper development, which is responsible for body movement.

It also directs the migration of nerve cells in the brain. The proper migration of nerve cells in the brain is vital, especially in the early stages of brain development. Any issues with alpha-dystroglycan interfere with its functioning and cause the progressive degeneration of the skeletal muscles and impede brain development.

Although the function of alpha-dystroglycan in the eye is unclear, any problems with its functioning also cause eye problems.

MEB and alpha-dystroglycan

To function correctly, alpha-dystroglycan has to be modified by the addition of a sugar molecule in a process called glycosylation. Several enzymes have been described that are responsible for the glycosylation of alpha-dystroglycan.

MEB is the result of a mutation in the POMGnT1 gene, which carries the instructions necessary to make one such alpha-dystroglycan-modifying enzyme. This enzyme is called O-linked mannose N-acetylglucosaminyltransferase 1. The mutation in the POMGnT1 gene leads to the production of a protein that fails to modify alpha-dystroglycan correctly and renders it non-functional.

 

Last updated: Aug. 23, 2019

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Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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