672P New insights into Pompe disease using Raman-microscopy

Morbus Pompe is an autosomal recessive glycogen storage disease caused by missing or reduced activity of the lysosomal enzyme α-1,4-Glucosidase (GAA). The resulting inability to break down glycogen within the lysosomes leads to a pathological accumulation of glycogen in lysosomes, followed by lysoso...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2024-10, Vol.43, p.104441, Article 104441.730
Main Authors: Hintze, S., Krois, E., Wieland, K., Meinke, P., Haisch, C., Schoser, B.
Format: Article
Language:English
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Summary:Morbus Pompe is an autosomal recessive glycogen storage disease caused by missing or reduced activity of the lysosomal enzyme α-1,4-Glucosidase (GAA). The resulting inability to break down glycogen within the lysosomes leads to a pathological accumulation of glycogen in lysosomes, followed by lysosomal rupture and cellular damage. Successively, this leads to progressive muscle weakness and atrophy throughout the body and affects various body tissues. Since the existing glycogen measurements can only be performed in bulk or are unspecific, e.g. the histological PAS staining, we investigated using Raman-microcopy for single-cell glycogen measurement in primary myoblast from late-onset Pompe patients and controls. Raman-microscopy detected glycogen enrichment in Pompe myoblasts. For that Raman-microscopy could be used to show the efficiency of existing or future therapeutic approaches on a single cell level.
ISSN:0960-8966
DOI:10.1016/j.nmd.2024.07.739