Mucopolysaccharidosis and autophagy: controversies on the contribution of the process to the pathogenesis and possible therapeutic applications
Karolina Pierzynowska , Lidia Gaffke , Magdalena Podlacha , Joanna Brokowska , Grzegorz Węgrzyn
AbstractMucopolysaccharidosis (MPS) consists of a group of 11 enzymatic defects which result in accumulation of undegraded glycosaminoglycans (GAG) in lysosomes. MPS is a severe metabolic disease for which only bone marrow/hematopoietic stem cell transplantation and enzyme replacement therapy are current therapeutic options. However, they are available for only a few of MPS types, and are ineffective in treatment of central nervous system. Recent studies indicated that the autophagy process can be impaired in MPS, but various contradictory conclusions have been published in this matter. Nevertheless, stimulation of autophagy has been proposed as a potential therapeutic option for MPS, and very recent results suggest that such approach might be effective in improving MPS symptoms. Still the mechanisms of autophagy changes in MPS are not clear, and efficiency of autophagy activation in clearing the storage material requires further investigation. These problems are summarized and discussed in this review.
|Journal series||NeuroMolecular Medicine, ISSN 1535-1084, e-ISSN 1559-1174, (N/A 70 pkt)|
|Publication size in sheets||0.5|
|Keywords in English||Mucopolysaccharidosis, autophagy, glycosaminoglycans, genistein, trehalose|
|ASJC Classification||; ;|
|License||Other; published final; ; with publication|
|Score||= 70.0, 29-03-2020, ArticleFromJournal|
|Publication indicators||= 1; : 2016 = 0.915; : 2018 = 2.576 (2) - 2018=3.281 (5)|
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