Mucopolysaccharidosis III: Molecular basis and treatment

Lidvana Spahiu; Emir Behluli; Borut Peterlin; Hilada Nefic; Rifat Hadziselimovic; Thomas Liehr; Gazmend Temaj

doi:10.5114/pedm.2021.109270

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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3/2021
vol. 27

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Artykuł przeglądowy

Mukopolisacharydoza III: podstawy molekularne i leczenie

Lidvana Spahiu

¹

,

Emir Behluli

¹

,

Borut Peterlin

²

,

Hilada Nefic

³

,

Rifat Hadziselimovic

³

,

Thomas Liehr

⁴

,

Gazmend Temaj

⁵

Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo

Department of Genetics and Genomics, University Clinical Center Ljubljana, Slovenia

Faculty of Science, University of Sarajevo, Sarajevo, Bosnia and Herzegovina, Bosnia and Herzegovina

Institut für Humangenetik, Universitätsklinikum Jena, Friedrich Schiller Universität, Jena Germany, Germany

Human Genetics, College UBT, Faculty of Pharmacy Prishtina, Kosovo

Pediatr Endocrinol Diabetes Metab 2021; 27 (3): 199–208

DOI: https://doi.org/10.5114/pedm.2021.109270

Data publikacji online: 2021/09/30

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Metryki PlumX:

Mucopolysaccharidoses (MPSs) are known as rare genetic diseases which are caused by mutation in the enzyme heparin sulfate, which normally leads to degradation and accumulation of glycosaminoglycans in the cells. There are 11 types of MPSs, whereby neuropathy may occur in seven of them (MPS I, II, IIIA, IIIB, IIIC, IIID and VII). Accumulation of degraded heparin sulfate in lysosomes causes cellular dysfunction and malfunction of several organs. However, the exact molecular mechanism how protein degradation and storage leads to cellular dysfunction is not understood, yet. Nonetheless, several genetic and biochemical methods for diagnosis of MPSs are available nowadays. Here we provide an overview on known molecular basis of MPS in general, including enzyme defects and symptoms of MPS; however, the main focus is on MPS type III together with potential and perspective therapy-options.

Mukopolisacharydoza III: podstawy molekularne i leczenie

Lidvana Spahiu 1 , Emir Behluli 1 , Borut Peterlin 2 , Hilada Nefic 3 , Rifat Hadziselimovic 3 , Thomas Liehr 4 , Gazmend Temaj 5

Lidvana Spahiu

¹

,

Emir Behluli

¹

,

Borut Peterlin

²

,

Hilada Nefic

³

,

Rifat Hadziselimovic

³

,

Thomas Liehr

⁴

,

Gazmend Temaj

⁵