Changes in cellular processes occurring in mucopolysaccharidoses as underestimated pathomechanisms of these diseases

Lidia Gaffke , Karolina Pierzynowska , Magdalena Podlacha , Joanna Brokowska , Grzegorz Węgrzyn

Abstract

Mucopolysaccharidoses (MPS) are a group of genetic disorders belonging to lysosomal storage diseases. They are caused by genetic defects leading to a lack or severe deficiency of activity of one of lysosomal hydrolases involved in degradation of glycosaminoglycans (GAGs). Partially degraded GAGs accumulate in lysosomes, which results in dysfunctions of cells, tissues, and organs. Until recently, it was assumed that GAG accumulation in cells is the major, if not the only, mechanism of pathogenesis in MPS, as GAGs may be a physical ballast for lysosomes causing inefficiency of cells due to a large amount of a stored material. However, recent reports suggest that in MPS cells there are changes in many different processes, which might be even more important for pathogenesis than lysosomal accumulation of GAGs per se. Moreover, there are many recently published results indicating that lysosomes not only are responsible for degradation of various macromolecules, but also play crucial roles in the regulation of cellular metabolism. Therefore, it appears plausible that previous failures in treatment of MPS (i.e., possibility to correct only some symptoms and slowing down of the disease rather than fully effective management of MPS) might be caused by underestimation of changes in cellular processes and concentration solely on decreasing GAG levels in cells.
Publication typeIn press (online first, early view)
Author Lidia Gaffke (FB/DMoB)
Lidia Gaffke,,
- Department of Molecular Biology
, Karolina Pierzynowska (FB/DMoB)
Karolina Pierzynowska,,
- Department of Molecular Biology
, Magdalena Podlacha (FB/DMoB)
Magdalena Podlacha,,
- Department of Molecular Biology
, Joanna Brokowska (FB/DMoB)
Joanna Brokowska,,
- Department of Molecular Biology
, Grzegorz Węgrzyn (FB/DMoB)
Grzegorz Węgrzyn,,
- Department of Molecular Biology
Journal seriesCell Biology International, ISSN 1065-6995, e-ISSN 1095-8355, (N/A 70 pkt)
Issue year2020
Noonline first
Keywords in Englishcellular processes, glycosaminoglycans, mucopolysaccharidoses, pathomechanisms
ASJC Classification2700 General Medicine; 1307 Cell Biology
DOIDOI:10.1002/cbin.11275
Languageen angielski
Score (nominal)70
Score sourcejournalList
ScoreMinisterial score = 70.0, 08-06-2020, ArticleFromJournal
Publication indicators WoS Citations = 2.000; Scopus SNIP (Source Normalised Impact per Paper): 2018 = 0.564; WoS Impact Factor: 2018 = 2.127 (2) - 2018=1.899 (5)
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