TY - GEN
T1 - Protein analysis of exon 8 mutation in iduronate 2-sulfatase gene in mucopolysaccharidosis type II patients in Indonesia
AU - Putri, Anggia Nurwulan Kusno
AU - Arianto, Steven
AU - Priambodo, Rizky
AU - Ariani, Yulia
AU - Sjarif, Damayanti Rusli
N1 - Funding Information:
This research was funded by grants from HIBAH PITTA Universitas Indonesia. We also thank to Tamsin Sheen, Ph.D, from Edanz Group for editing the draft of this manuscript.
Publisher Copyright:
© 2019 Author(s).
PY - 2019/12/10
Y1 - 2019/12/10
N2 - 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.
AB - 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.
KW - deletion
KW - exon 8
KW - IDS gene
KW - lysosomal storage disorder
KW - Mucopolysaccharidosis II
KW - mutation
KW - PCR
UR - http://www.scopus.com/inward/record.url?scp=85076749551&partnerID=8YFLogxK
U2 - 10.1063/1.5139366
DO - 10.1063/1.5139366
M3 - Conference contribution
AN - SCOPUS:85076749551
T3 - AIP Conference Proceedings
BT - 4th Biomedical Engineering''s Recent Progress in Biomaterials, Drugs Development, Health, and Medical Devices
A2 - Lischer, Kenny
A2 - Abuzairi, Tomy
A2 - Rahman, Siti Fauziyah
A2 - Gozan, Misri
PB - American Institute of Physics Inc.
T2 - 4th International Symposium of Biomedical Engineering�s Recent Progress in Biomaterials, Drugs Development, Health, and Medical Devices, ISBE 2019
Y2 - 22 July 2019 through 24 July 2019
ER -