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Differences in Gene Expression Patterns, Revealed by RNA-Seq Analysis, Between Various Sanfilippo and Morquio Disease Subtypes

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source: Gene

year: 2022

authors: Wiśniewska K,Gaffke L,Krzelowska K,Węgrzyn G,Pierzynowska K


Mucopolysaccharidoses (MPS) are genetic disorders that affect up to 1 in 25,000 births. They are caused by dysfunctions of lysosomal hydrolases that degrade glycosaminoglycans (GAGs) which accumulate in cells, damaging their proper functioning. There are 7 types of MPS, distinguished by the kind of accumulated GAG and the defective enzyme, which differ significantly in the course of the disease. Despite the storage of the same GAGs, two of them (MPS III and IV) are divided into subtypes. While the course of MPS IV A and B is similar, the variability between MPS III A, B, C and D is high. This suggests that there are additional aspects that could influence the course of the disease. Therefore, the aim of this study was to determine differences of patterns of gene expression between all MPS III and IV subtypes. Transcriptomic studies, carried out with dermal fibroblasts from patients with all MPS III and IV subtypes, showed a significant variation in the gene expression pattern between individual MPS III subtypes, in contrast to MPS IV. Detailed analysis of transcripts with altered expression levels between MPS III subtypes indicated that these transcripts are mainly involved in maintaining the proper structure of connective tissue (COL4A1, COL4A2, COMP) and the structure of ribosomes (RPL10, RPL23, RPLP2). The results presented in this study indicate a significant role of genetic factors in the diversified course of MPS III subtypes.

organization: Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.

DOI: 10.1016/j.gene.2021.146090

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