Spierfonds Grant for research on Glycosylation-related myopathies

Lefeber Dirk

Dr. Monique van Scherpenzeel, Dept. of Laboratory Medicine, Dr. Nicol Voermans and Dr. Dirk Lefeber, Dept. of Neurology have received a 250.000 EUR grant from the Prinses Beatrix Spierfonds for research on a recently identified metabolic myopathy.

The researchers identified a novel  exercise-induced myopathy due to deficiency of the phosphoglucomutase PGM1, involved in generating energy from glycolysis. Identification of abnormal protein glycosylation in blood and studies in patient fibroblasts revealed opportunities for therapeutic intervention.

In this project, muscle-related cellular models will be established using patient-derived fibroblasts and via genome editing of cell lines using CRISPR/cas9. Changes in cellular sugar metabolism will be studied using novel technology for dynamic tracing of isotopically labeled sugars and linked with abnormal glycosylation of muscle proteins. This platform will be used to modulate sugar metabolism in order to optimize protein glycosylation and thereby optimize the current treatment regime. 

Title: “PGM1 deficiency- a heterogeneous myopathy with opportunities for treatment”


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Dr. Monique Scherpenzeel                                 Dr. Nicol Voermans

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