The Role of Gene Expression Dysregulation in the Pathogenesis of Mucopolysaccharidosis: A Comparative Analysis of Shared and Specific Molecular Markers in Neuronopathic and Non-Neuronopathic Types of the Disease.

ABSTRACT: Mucopolysaccharidosis (MPS) comprises a group of inherited metabolic diseases. Each MPS type is caused by a deficiency in the activity of one kind of enzymes involved in glycosaminoglycan (GAG) degradation, resulting from the presence of pathogenic variant(s) of the corresponding gene. All types/subtypes of MPS, which are classified on the basis of all kinds of defective enzymes and accumulated GAG(s), are severe diseases. However, neuronopathy only occurs in some MPS types/subtypes (specifically severe forms of MPS I and MPS II, all subtypes of MPS III, and MPS VII), while in others, the symptoms related to central nervous system dysfunctions are either mild or absent. The early diagnosis of neuronopathy is important for the proper treatment and/or management of the disease; however, ther

SUBMITTER: Wisniewska K 

PROVIDER: S-EPMC11678658 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature