Journal Article (Review Article)

DZNE-2022-00136

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png A molecular genetics view on Mucopolysaccharidosis Type II.

Verma, S. ; Pantoom, S. ; Petters, J. ; Pandey, A. K. ; Hermann, A.DZNE* ; Lukas, J.

2021
Elsevier Science Amsterdam [u.a.]

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Please use a persistent id in citations: doi:10.1016/j.mrrev.2021.108392

Abstract: Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male patients. With an incidence of 1 in 100,000 male live births, the disease is one of the orphan diseases. MPS II symptoms are caused by mutations in the lysosomal iduronate-2-sulfatase (IDS) gene. The mutations cause a loss of enzymatic performance and result in the accumulation of glycosaminoglycans (GAGs), heparan sulfate and dermatan sulfate, which are no longer degradable. This inadvertent accumulation causes damage in multiple organs and leads either to a severe neurological course or to an attenuated course of the disease, although the exact relationship between mutation, extent of GAG accumulation and disease progression is not yet fully understood. This review is intended to present current diagnostic procedures and therapeutic interventions. In times when the genetic profile of patients plays an increasingly important role in the assessment of therapeutic success and future drug design, we chose to further elucidate the impact of genetic diversity within the IDS gene on disease phenotype and potential implications in current diagnosis, prognosis and therapy. We report recent advances in the structural biological elucidation of I2S enzyme that that promises to improve our future understanding of the molecular damage of the hundreds of IDS gene variants and will aid damage prediction of novel mutations in the future.

Keyword(s): Animals (MeSH) ; Glycoproteins: chemistry (MeSH) ; Glycoproteins: genetics (MeSH) ; Glycoproteins: metabolism (MeSH) ; Humans (MeSH) ; Mucopolysaccharidosis II: drug therapy (MeSH) ; Mucopolysaccharidosis II: genetics (MeSH) ; Mucopolysaccharidosis II: metabolism (MeSH) ; Mutation (MeSH) ; Phenotype (MeSH) ; Genotype-phenotype correlation ; Hunter syndrome ; Iduronate-2-sulfatase ; Individualized medicine ; Lysosomal storage disease ; Missense mutations ; Glycoproteins ; IDS protein, human

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Contributing Institute(s):

1. Clinical Dementia Research (Rostock /Greifswald) (AG Teipel)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2021

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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