Protein analysis of exon 8 mutation in iduronate 2-sulfatase gene in mucopolysaccharidosis type II patients in Indonesia

Anggia Nurwulan Kusno Putri, Steven Arianto, Rizky Priambodo, Yulia Ariani, Damayanti Rusli Sjarif

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

Abstract

Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare, X-linked, recessive lysosomal storage disease caused by a deficiency of enzyme iduronate-2-sulfatase (I2S), encoded by IDS gene. I2S enzyme catalyzes the degradation of glycosaminoglycans (GAGs), such as dermatan sulfate (DS) and heparan sulfate (HS). Deficiency of I2S leads to the accumulation of these glycosaminoglycans in the tissues. Exon-specific analyses of IDS exon 8 has been analyzed from eight MPS II Indonesian patients at Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia. Identification of IDS exon 8 was performed using PCR and sequencing-based methods. One previously reported deletion mutation (c.1023delA) of exon 8 was identified amongst the patients, causing a frameshift in the corresponding amino acid sequence (p.Glu341AspfsTer19), observed in one patients. This mutation causes a reduction in the number of amino acids and changes in the structure of 3D proteins. There is no reduction and change in the active site of the protein, but the termination that occurs at the 359th codon causes a reduction of two glycosylation sites. This study provides the first mutation analysis of exon 8 of IDS, and successfully identified mutations within the IDS gene that may be associated with MPS II. This supports the feasibility of early diagnosis and screening for MPS II in the future.

Original languageEnglish
Title of host publication4th Biomedical Engineering''s Recent Progress in Biomaterials, Drugs Development, Health, and Medical Devices
Subtitle of host publicationProceedings of the International Symposium of Biomedical Engineering, ISBE 2019
EditorsKenny Lischer, Tomy Abuzairi, Siti Fauziyah Rahman, Misri Gozan
PublisherAmerican Institute of Physics Inc.
ISBN (Electronic)9780735419445
DOIs
Publication statusPublished - 10 Dec 2019
Event4th International Symposium of Biomedical Engineering�s Recent Progress in Biomaterials, Drugs Development, Health, and Medical Devices, ISBE 2019 - Padang, West Sumatera, Indonesia
Duration: 22 Jul 201924 Jul 2019

Publication series

NameAIP Conference Proceedings
Volume2193
ISSN (Print)0094-243X
ISSN (Electronic)1551-7616

Conference

Conference4th International Symposium of Biomedical Engineering�s Recent Progress in Biomaterials, Drugs Development, Health, and Medical Devices, ISBE 2019
CountryIndonesia
CityPadang, West Sumatera
Period22/07/1924/07/19

Keywords

  • deletion
  • exon 8
  • IDS gene
  • lysosomal storage disorder
  • Mucopolysaccharidosis II
  • mutation
  • PCR

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