Journal
METABOLIC BRAIN DISEASE
Volume 35, Issue 8, Pages 1353-1360Publisher
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s11011-020-00614-2
Keywords
Mucopolysaccharidoses; Transcriptomics; Regulation of cellular processes
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Funding
- National Science Center, Poland [2017/25/B/NZ2/00414]
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Recent studies indicated that apart from lysosomal storage of glycosaminoglycans (GAGs), secondary and tertiary changes in cellular processes may significantly contribute to development of disorders and symptoms occurring in mucopolysaccharidoses (MPS), a group of lysosomal storage diseases in which neurodegeneration is specific for most types and subtypes. In this report, using transcriptomic data, we demonstrate that regulation of hundreds of genes coding for proteins involved in regulations of various cellular processes is changed in cells derived from patients suffering from all types and subtypes of MPS. Among such genes there are 10 which expression is significantly changed in 9 or more (out of 11) MPS types/subtypes; they includeIER3IP1, SAR1A, TMEM38B, PLCB4, SIN3B, ABHD5, SH3BP5, CAPG, PCOLCE2,andMN1. Moreover, there are several genes whose expression is changed over log(2) > 4 times in some MPS types relative to control cells. The above analysis indicates that significant changes in expression of genes coding for various regulators of cellular processes may considerably contribute to development of cellular dysfunctions, and further appearance of specific symptoms of MPS, including neurodegeneration.
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