Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase

2001 ◽  
Vol 18 (4) ◽  
pp. 282-295 ◽  
Author(s):  
Tom Litjens ◽  
John J. Hopwood
Keyword(s):  
Clinical Implications ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type Vi

Mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome) with a predominantly cardiac phenotype

2011 ◽  
Vol 104 (4) ◽  
pp. 695-699 ◽  
Author(s):  
Agnieszka Jurecka ◽  
Adam Golda ◽  
Violetta Opoka-Winiarska ◽  
Ewa Piotrowska ◽  
Anna Tylki-Szymańska
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type Vi ◽  
Cardiac Phenotype

Anesthesia in a patient with mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome)

2010 ◽  
Vol 24 (6) ◽  
pp. 945-948 ◽  
Author(s):  
Soon Hak Suh ◽  
Ryu Okutani ◽  
Masato Nakasuji ◽  
Kazuo Nakata
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type Vi

scholarly journals Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy

Medicine ◽  
2018 ◽  
Vol 97 (42) ◽  
pp. e12872 ◽  
Author(s):  
Myriam Ley-Martos ◽  
Juan M. Guerrero ◽  
Marta Lucas-Javato ◽  
Cristina Remón-García ◽  
J. Raúl García-Lozano ◽  
...  
Keyword(s):  
Replacement Therapy ◽  
Family Study ◽  
Novel Mutation ◽  
Mucopolysaccharidosis Type ◽  
Severe Phenotype ◽  
Mucopolysaccharidosis Type Vi ◽  
Enzymatic Replacement Therapy

scholarly journals A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis

2020 ◽  
Vol 25 ◽  
pp. 100658
Author(s):  
Barbara Zapała ◽  
Olaf Chmura ◽  
Urszula Ciałowicz ◽  
Bogdan Solnica ◽  
Magdalena Krajewska-Włodarczyk ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type Vi

scholarly journals Overexpression of N-acetylgalactosamine-4-sulphatase induces a multiple sulphatase deficiency in mucopolysaccharidosis-type-VI fibroblasts

1993 ◽  
Vol 294 (3) ◽  
pp. 657-662 ◽  
Author(s):  
D S Anson ◽  
V Muller ◽  
J Bielicki ◽  
G S Harper ◽  
J J Hopwood
Keyword(s):  
Practical Importance ◽  
High Titre ◽  
Skin Fibroblasts ◽  
Mucopolysaccharidosis Type ◽  
Subcellular Compartment ◽  
Mucopolysaccharidosis Type Vi ◽  
Steroid Sulphatase ◽  
Mps Vi ◽  
Genetically Determined ◽  
Processing Mechanism

High-titre stocks of an amphotropic retrovirus, constructed so as to express a full-length cDNA encoding the human lysosomal enzyme N-acetylgalactosamine-4-sulphatase (4-sulphatase) from the cytomegalovirus immediate early promoter, were used to infect skin fibroblasts from a clinically severe mucopolysaccharidosis type VI (MPS VI) patient. The infected MPS VI cells showed correction of the enzymic defect with the enzyme being expressed at high levels and in the correct subcellular compartment. Surprisingly this did not result in correction of glycosaminoglycan turnover as measured by accumulation of 35S in metabolically labelled cells. We demonstrate that this is apparently caused by an induced reduction of the activities of other lysosomal sulphatases, presumably due to competition for a sulphatase-specific processing mechanism by the over-expressed 4-sulphatase. The level of steroid sulphatase, which is a microsomal sulphatase, was also reduced. Infection of skin fibroblasts from a second, clinically mildly affected, MPS VI patient with the same virus also resulted in no significant change in the level of glycosaminoglycan storage. However, in this case the cause of the observed phenomenon was less clear. These results are of obvious practical importance when considering gene therapy for a sulphatase deficiency such as MPS VI and also provide possible new avenues for exploration of the processes involved in sulphatase synthesis and genetically determined multiple sulphatase deficiency.

Sign in / Sign up

Export Citation Format

Share Document