The detail information of Mucopolysaccharidosis I
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 1992

Species-specific name: Mucopolysaccharidosis I

Species-specific symbol: MPS I

More detail information can see in

Associated Breeds
There are associated breeds.
Associated Gene
Symbol Description Species Position Other Links
IDUA iduronidase, alpha-L- Canis lupus familiaris Chr3 : 92532617 - 92515340 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2020 Faller,K.M.E.,Ridyard,A.E.,Gutierrez-Quintana,R.,Rupp,A.,Kun-Rodrigues,C.,Orme,T.,Tylee,K.L.,Church,H.J.,Guerreiro,R.,Bras,J.: :
A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I. J Vet Intern Med :, 2020.
Pubmed reference: 32785987 . DOI: 10.1111/jvim.15868 .
2020 Mansour,T.A.,Woolard,K.D.,Vernau,K.L.,Ancona,D.M.,Thomasy,S.M.,Sebbag,L.,Moore,B.A.,Knipe,M.F.,Seada,H.A.,Cowan,T.M.,Aguilar,M.,TitusBrown,C.,Bannasch,D.L.: :
Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. Sci Rep 10:6558, 2020.
Pubmed reference: 32300136 . DOI: 10.1038/s41598-020-63451-4 .
2020 Miyadera,K.,Conatser,L.,Llanga,T.A.,Carlin,K.,O'Donnell,P.,Bagel,J.,Song,L.,Kurtzberg,J.,Samulski,R.J.,Gilger,B.,Hirsch,M.L.: :
Intrastromal Gene Therapy Prevents and Reverses Advanced Corneal Clouding in a Canine Model of Mucopolysaccharidosis I. Mol Ther :, 2020.
Pubmed reference: 32330426 . DOI: 10.1016/j.ymthe.2020.04.004 .
2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 .
2020 Switonski,M.: :
Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet :, 2020.
Pubmed reference: 32189222 . DOI: 10.1007/s13353-020-00554-8 .
2017 Middleton,D.M.,Li,J.Y.,Chen,S.D.,White,L.E.,Dickson,P.,Ellinwood,N.M.,Provenzale,J.M.: :
Diffusion tensor imaging findings suggestive of white matter alterations in a canine model of mucopolysaccharidosis type I. Neuroradiol J :1971400917715792, 2017.
Pubmed reference: 28695759 . DOI: 10.1177/1971400917715792 .
2016 Hinderer,C.,Bell,P.,Louboutin,J.P.,Katz,N.,Zhu,Y.,Lin,G.,Choa,R.,Bagel,J.,O'Donnell,P.,Fitzgerald,C.A.,Langan,T.,Wang,P.,Casal,M.L.,Haskins,M.E.,Wilson,J.M.: :
Neonatal tolerance induction enables accurate evaluation of gene therapy for MPS I in a canine model. Mol Genet Metab 119:124-30, 2016.
Pubmed reference: 27386755 . DOI: 10.1016/j.ymgme.2016.06.006 .
2016 Khalid,O.,Vera,M.U.,Gordts,P.L.,Ellinwood,N.M.,Schwartz,P.H.,Dickson,P.I.,Esko,J.D.,Wang,R.Y.: :
Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. PLoS One 11:e0150850, 2016.
Pubmed reference: 26986213 . DOI: 10.1371/journal.pone.0150850 .
2016 Simonaro,C.M.,Tomatsu,S.,Sikora,T.,Kubaski,F.,Frohbergh,M.,Guevara,J.M.,Wang,R.Y.,Vera,M.,Kang,J.L.,Smith,L.J.,Schuchman,E.H.,Haskins,M.E.: :
Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs. PLoS One 11:e0153136, 2016.
Pubmed reference: 27064989 . DOI: 10.1371/journal.pone.0153136 .
2015 Choi,J.,Dickson,P.,Calabrese,E.,Chen,S.,White,L.,Ellingwood,M.,Provenzale,J.M.: :
Predicting degree of myelination based on diffusion tensor imagining of canines with mucopolysaccharidosis type I. Neuroradiol J 28:562-73, 2015.
Pubmed reference: 26475483 . DOI: 10.1177/1971400915609351 .
2015 Hinderer,C.,Bell,P.,Louboutin,J.P.,Zhu,Y.,Yu,H.,Lin,G.,Choa,R.,Gurda,B.L.,Bagel,J.,O'Donnell,P.,Sikora,T.,Ruane,T.,Wang,P.,Tarantal,A.F.,Casal,M.L.,Haskins,M.E.,Wilson,J.M.: :
Neonatal Systemic AAV Induces Tolerance to CNS Gene Therapy in MPS I Dogs and Nonhuman Primates. Mol Ther 23:1298-307, 2015.
Pubmed reference: 26022732 . DOI: 10.1038/mt.2015.99 .
2015 Provenzale,J.M.,Nestrasil,I.,Chen,S.,Kan,S.H.,Le,S.Q.,Jens,J.K.,Snella,E.M.,Vondrak,K.N.,Yee,J.K.,Vite,C.H.,Elashoff,D.,Duan,L.,Wang,R.Y.,Ellinwood,N.M.,Guzman,M.A.,Shapiro,E.G.,Dickson,P.I.: :
Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis I. Exp Neurol 273:1-10, 2015.
Pubmed reference: 26222335 . DOI: 10.1016/j.expneurol.2015.07.021 .
2013 Chiaro,J.A.,Baron,M.D.,DelAlcazar,C.M.,O'Donnell,P.,Shore,E.M.,Elliott,D.M.,Ponder,K.P.,Haskins,M.E.,Smith,L.J.: :
Postnatal progression of bone disease in the cervical spines of mucopolysaccharidosis I dogs. Bone 55:78-83, 2013.
Pubmed reference: 23563357 . DOI: 10.1016/j.bone.2013.03.014 .
2013 Vite,C.H.,Nestrasil,I.,Mlikotic,A.,Jens,J.K.,Snella,E.M.,Gross,W.,Shapiro,E.G.,Kovac,V.,Provenzale,J.M.,Chen,S.,Le,S.Q.,Kan,S.H.,Banakar,S.,Wang,R.Y.,Haskins,M.E.,Ellinwood,N.M.,Dickson,P.I.: :
Features of brain MRI in dogs with treated and untreated mucopolysaccharidosis type I. Comp Med 63:163-73, 2013.
Pubmed reference: 23582423 .
2011 Chen,A.,Vogler,C.,Mcentee,M.,Hanson,S.,MatthewEllinwood,N.,Jens,J.,Snella,E.,Passage,M.,Le,S.,Guerra,C.,Dickson,P.: :
Glycosaminoglycan storage in neuroanatomical regions of mucopolysaccharidosis I dogs following intrathecal recombinant human iduronidase. APMIS 119:513-521, 2011.
Pubmed reference: 21749451 . DOI: 10.1111/j.1600-0463.2011.02760.x .
2011 Ellinwood,N.M.,Ausseil,J.,Desmaris,N.,Bigou,S.,Liu,S.,Jens,J.K.,Snella,E.M.,Mohammed,E.E.,Thomson,C.B.,Raoul,S.,Joussemet,B.,Roux,F.,Chérel,Y.,Lajat,Y.,Piraud,M.,Benchaouir,R.,Hermening,S.,Petry,H.,Froissart,R.,Tardieu,M.,Ciron,C.,Moullier,P.,Parkes,J.,Kline,K.L.,Maire,I.,Vanier,M.T.,Heard,J.M.,Colle,M.A.: :
Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes. Mol Ther 19:251-9, 2011.
Pubmed reference: 21139569 . DOI: 10.1038/mt.2010.265 .
2011 Lyons,JA.,Dickson,PI.,Wall,JS.,Passage,MB.,Ellinwood,NM.,Kakkis,ED.,McEntee,MF.: :
Arterial pathology in canine mucopolysaccharidosis-I and response to therapy. Lab Invest 91:665-74, 2011.
Pubmed reference: 21383673 . DOI: 10.1038/labinvest.2011.7 .
2011 Newkirk,KM.,Atkins,RM.,Dickson,PI.,Rohrbach,BW.,McEntee,MF.: :
Ocular lesions in canine mucopolysaccharidosis I and response to enzyme replacement therapy. Invest Ophthalmol Vis Sci 52:5130-5, 2011.
Pubmed reference: 21436264 . DOI: 10.1167/iovs.10-6751 .
2010 Dickson,PI.,Hanson,S.,McEntee,MF.,Vite,CH.,Vogler,CA.,Mlikotic,A.,Chen,AH.,Ponder,KP.,Haskins,ME.,Tippin,BL.,Le,SQ.,Passage,MB.,Guerra,C.,Dierenfeld,A.,Jens,J.,Snella,E.,Kan,SH.,Ellinwood,NM.: :
Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I. Mol Genet Metab 101:115-22, 2010.
Pubmed reference: 20655780 . DOI: 10.1016/j.ymgme.2010.06.020 .
2010 Dierenfeld,AD.,McEntee,MF.,Vogler,CA.,Vite,CH.,Chen,AH.,Passage,M.,Le,S.,Shah,S.,Jens,JK.,Snella,EM.,Kline,KL.,Parkes,JD.,Ware,WA.,Moran,LE.,Fales-Williams,AJ.,Wengert,JA.,Whitley,RD.,Betts,DM.,Boal,AM.,Riedesel,EA.,Gross,W.,Ellinwood,NM.,Dickson,PI.: :
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci Transl Med 2:60ra89, 2010.
Pubmed reference: 21123810 . DOI: 10.1126/scitranslmed.3001380 .
2010 Hordeaux,J.,Deniaud,J.,Bemelmans,I.,Bertrand,L.,Moreau,S.,Amiaud,J.,Wyers,M.,Cherel,Y.,Colle,MA.: :
Histopathologic Changes of the Ear in Canine Models of Mucopolysaccharidosis Types I and VII. Vet Pathol :, 2010.
Pubmed reference: 20930106 . DOI: 10.1177/0300985810384413 .
2010 Metcalf,JA.,Linders,B.,Wu,S.,Bigg,P.,O'Donnell,P.,Sleeper,MM.,Whyte,MP.,Haskins,M.,Ponder,KP.: :
Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression. Mol Genet Metab 99:396-407, 2010.
Pubmed reference: 20044292 . DOI: 10.1016/j.ymgme.2009.12.003 .
2009 Carlstrom,LP.,Jens,JK.,Dobyns,ME.,Passage,M.,Dickson,PI.,Ellinwood,NM.: :
Inadvertent propagation of factor VII deficiency in a canine mucopolysaccharidosis type I research breeding colony. Comp Med 59:378-82, 2009.
Pubmed reference: 19712579 .
2009 Passage,MB.,Krieger,AW.,Peinovich,MC.,Lester,T.,Le,SQ.,Dickson,PI.,Kakkis,ED.: :
Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogs. J Inherit Metab Dis :, 2009.
Pubmed reference: 19562502 . DOI: 10.1007/s10545-009-1198-5 .
2008 Dickson,P.,Peinovich,M.,Mcentee,M.,Lester,T.,Le,S.,Krieger,A.,Manuel,H.,Jabagat,C.,Passage,M.,Kakkis,ED.: :
Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I. J Clin Invest 118:2868-76, 2008.
Pubmed reference: 18654672 . DOI: 10.1172/JCI36521 .
2008 Herati,RS.,Knox,VW.,O'Donnell,P.,D'Angelo,M.,Haskins,ME.,Ponder,KP.: :
Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. Mol Genet Metab 95:142-51, 2008.
Pubmed reference: 18707908 . DOI: 10.1016/j.ymgme.2008.07.003 .
2007 Traas,AM.,Wang,P.,Ma,X.,Tittiger,M.,Schaller,L.,O'Donnell,P.,Sleeper,MM.,Vite,C.,Herati,R.,Aguirre,GD.,Haskins,M.,Ponder,KP.: :
Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy. Mol Ther 15:1423-31, 2007.
Pubmed reference: 17519893 . DOI: 10.1038/sj.mt.6300201 .
2004 Kakkis,E.,Mcentee,M.,Vogler,C.,Le,S.,Levy,B.,Belichenko,P.,Mobley,W.,Dickson,P.,Hanson,S.,Passage,M.: :
Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol Genet Metab 83:163-74, 2004.
Pubmed reference: 15464431 . DOI: 10.1016/j.ymgme.2004.07.003 .
2002 Meertens,L.,Zhao,Y.J.,Rosic-Kablar,S.,Li,L.H.,Chan,K.,Dobson,H.,Gartley,C.,Lutzko,C.,Hopwood,J.,Kohn,D.,Kruth,S.,Hough,M.R.,Dube,I.D.: :
In utero injection of alpha-L-iduronidase-carrying retrovirus in canine mucopolysaccharidosis type I: Infection of multiple tissues and neonatal gene expression Human Gene Therapy 13:1809-1820, 2002.
Pubmed reference: 12396614 . DOI: 10.1089/104303402760372918 .
1999 Lutzko,C.,Kruth,S.,Abrams-Ogg,A.C.G.,Lau,K.,Li,L.H.,Clark,B.R.,Ruedy,C.,Nanji,S.,Foster,R.,Kohn,D.,Shull,R.,Dube,I.D.: :
Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency Blood 93:1895-1905, 1999.
Pubmed reference: 10068662 .
1999 Lutzko,C.,Omori,F.,Abrams-Ogg,A.C.G.,Shull,R.,Li,L.H.,Lau,K.,Ruedy,C.,Nanji,S.,Gartley,C.,Dobson,H.,Foster,R.,Kruth,S.,Dube,I.D.: :
Gene therapy for canine alpha-L-iduronidase deficiency: In utero adoptive transfer of genetically corrected hematopoietic progenitors results in engraftment but not amelioration of disease Human Gene Therapy 10:1521-1532, 1999.
Pubmed reference: 10395377 . DOI: 10.1089/10430349950017851 .
1998 Mcentee,M.F.,Wright,K.N.,Wanless,I.,Denovo,R.,Schneider,J.F.,Shull,R.: :
Noncirrhotic portal hypertension and nodular regenerative hyperplasia of the liver in dogs with mucopolysaccharidosis type I Hepatology 28:385-390, 1998.
Pubmed reference: 9696001 . DOI: 10.1002/hep.510280214 .
1996 Kakkis,E.D.,Mcentee,M.F.,Schmidtchen,A.,Neufeld,E.F.,Ward,D.A.,Gompf,R.E.,Kania,S.,Bedolla,C.,Chien,S.L.,Shull,R.M.: :
Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis Biochemical & Molecular Medicine 58:156-167, 1996.
1996 Kruth,S.: :
Canine models for gene therapy Transfusion Science 17:71-77, 1996.
1996 Shull,R.M.,Lu,X.C.,Mcentee,M.F.,Bright,R.M.,Pepper,K.A.,Kohn,D.B.: :
Myoblast gene therapy in canine mucopolysaccharidosis i - abrogation by an immune response to alpha-l-iduronidase Human Gene Therapy 7:1595-1603, 1996.
Pubmed reference: 8864760 . DOI: 10.1089/hum.1996.7.13-1595 .
1996 Shull,R.,Lu,X.C.,Dube,I.,Lutzko,C.,Kruth,S.,Abramsogg,A.,Kiem,H.P.,Goehle,S.,Schuening,F.,Millan,C.,Carter,R.: :
Humoral immune response limits gene therapy in canine MPS I Blood 88:377-379, 1996.
Pubmed reference: 8704199 .
1994 Shull,R.M.,Kakkis,E.D.,Mcentee,M.F.,Kania,S.A.,Jonas,A.J.,Neufeld,E.F.: :
Enzyme replacement in a canine model of Hurler syndrome Proceedings of the National Academy of Sciences of the United States of America 91:12937-12941, 1994.
Pubmed reference: 7809150 .
1992 Menon,K.P.,Tieu,P.T.,Neufeld,E.F.: :
Architecture of the Canine IDUA Gene and Mutation Underlying Canine Mucopolysaccharidosis-I Genomics 14:763-768, 1992.
Pubmed reference: 1339393 .
1992 Stoltzfus,L.J.,Sosapineda,B.,Moskowitz,S.M.,Menon,K.P.,Dlott,B.,Hooper,L.,Teplow,D.B.,Shull,R.M.,Neufeld,E.F.: :
Cloning and Characterization of cDNA Encoding Canine alpha-L- Iduronidase - Messenger RNA Deficiency in Mucopolysaccharidosis-I Dog Journal of Biological Chemistry 267:6570-6575, 1992.
Pubmed reference: 1551868 .
1990 Gompf,R.E.,Shull,R.M.,Breider,M.A.,Scott,J.A.,Constantopoulos,G.C.: :
Cardiovascular Changes After Bone Marrow Transplantation in Dogs with Mucopolysaccharidosis-I American Journal of Veterinary Research 51:2054-2060, 1990.
Pubmed reference: 2150744 .
1989 Breider,M.A.,Shull,R.M.,Constantopoulos,G.: :
Long-Term Effects of Bone Marrow Transplantation in Dogs with Mucopolysaccharidosis 1 American Journal of Pathology 134:677-692, 1989.
Pubmed reference: 2493739 .
1989 Constantopoulos,G.,Scott,J.A.,Shull,R.M.: :
Corneal Opacity in Canine MPS-I - Changes After Bone Marrow Transplantation Investigative Ophthalmology & Visual Science 30:1802-1807, 1989.
Pubmed reference: 2503461 .
1982 Shull,R.M.,Munger,R.J.,Spellacy,E.,Hall,C.W.,Constantopoulos,G.,Neufeld,E.F.: :
Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I. Am J Pathol 109:244-8, 1982.
Pubmed reference: 6215865 .