The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases

  title={The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases},
  author={Maria Pia Cosma and Stefano Pepe and Ida Annunziata and Robert F. Newbold and Markus Grompe and Giancarlo Parenti and Andrea Ballabio},

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Sulfatases and human disease.
Current knowledge and future perspectives on the evolution of the sulfatases gene family, on the role of these enzymes in human metabolism, and on new developments in the therapy of sulfatase deficiencies are reviewed.
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.
It is demonstrated that co-delivery of SUMF1 may enhance the efficacy of gene therapy in several sulfatase deficiencies, and resulted in an improved clearance of the intracellular GAG or sulfolipid accumulation.
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency
Clinical, biochemical, and molecular data in MSD patients are compared for the first time and results show lack of a direct correlation between the type of molecular defect and the severity of phenotype.
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
It is shown that the active site, which is the target of the post-translational modification, is the most evolutionarily constrained region of sulfatases and shows intraspecies sequence convergence, suggesting a common evolutionary origin as well as similar catalytic mechanisms.
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification
This review summarizes the unique FGE/ sulfatase physiology, pathophysiology and clinical aspects in patients and their care and outlines future perspectives in MSD.
Multiple sulfatase deficiency with neonatal manifestation
A new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness is reported.


The sulfatase gene family.
Genetic complementation studies of multiple sulfatase deficiency.
  • A. Horwitz
  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
  • 1979
Genetic complementation in heterokaryons of MSD fibroblasts and cells of either Sanfilippo A or Hunter syndrome implies a genetic defect in MSD different from that causing specific sulfatase deficiencies.
Synthesis and stability of steroid sulfatase in fibroblasts from multiple sulfatase deficiency.
Multiple sulfatase deficiency is a lysosomal storage disorder, which can be divided into group I with severe and group II with moderate deficiencies in sulfatases, and fibroblasts from both groups synthesized steroid sulfat enzyme of apparently normal size and stability, while the apparent rate of enzyme synthesis and catalytic properties of steroid sulf atase were affected to a variable extent.
Structure of a human lysosomal sulfatase.
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
  • P. Chang, R. G. Davidson
  • Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1980
Results indicate that the mutations responsible for the deficiency of arylsulfatase A activity in metachromatic leukodystrophy and multiple sulfatase deficiency disorder are nonallelic and that at least two genetic loci control the expression of ariesulfatasing activity in the human genome.
Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG)
A novel gene consisting of 11 exons and encoding a 525 aa protein that shares a high degree of sequence similarity with all sulphatases and in particular with arylsulphatases is identified, hence the tentative name Arylsulfatase G (ARSG).
Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region.
The data indicate that the cluster of sulfatase genes on human Xp22.3 was created through duplication events which probably occurred in an ancestral PAR, and support the view that the PAR has undergone multiple changes during recent mammalian evolution.