Deficiencies of Glucosamine-6-Sulfate or Galactosamine-6-Sulfate Sulfatases Are Responsible for Different Mucopolysaccharidoses
[1-$^{3}$H]Galactitol-6-sulfate, N-[1-$^{3}$H]acetylgalactosaminitol-6-sulfate, N-[1-$^{3}$H]acetylglucosaminitol-6-sulfate, N-acetylglucosamine-6-sulfate, and 6-sulfated tetrasaccharides from chondroitin-6-sulfate have been used for the measurement of 6-sulfatase activity of extracts of normal skin...
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| Veröffentlicht in: | Science (American Association for the Advancement of Science) 1978-01, Vol.199 (4324), p.79-81 |
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| container_issue | 4324 |
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| container_title | Science (American Association for the Advancement of Science) |
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| creator | Di Ferrante, Nicola Ginsberg, Leonard C. Donnelly, Patricia V. Di Ferrante, Daniela T. Caskey, C. Thomas |
| description | [1-$^{3}$H]Galactitol-6-sulfate, N-[1-$^{3}$H]acetylgalactosaminitol-6-sulfate, N-[1-$^{3}$H]acetylglucosaminitol-6-sulfate, N-acetylglucosamine-6-sulfate, and 6-sulfated tetrasaccharides from chondroitin-6-sulfate have been used for the measurement of 6-sulfatase activity of extracts of normal skin fibroblasts and of fibroblasts cultured from patients with genetic mucopolysaccharidoses. With these substrates, extracts of fibroblasts derived from Morquio patients lack or have greatly reduced activities for galactitol-6-sulfate, N-acetylgalactosaminitol-6-sulfate, and 6-sulfated tetrasaccharides but have normal activity for N-acetylglucosamine-6-sulfate and its alditol; those derived from a patient with a newly discovered mucopolysaccharidosis have greatly reduced activity for N-acetylglucosamine-6-sulfate and its alditol but normal activity for galactitol-6-sulfate, N-acetylgalactosaminitol-6-sulfate, and the 6-sulfated tetrasaccharides. These findings demonstrate the existence of two different hexosamine-6-sulfate sulfatases, specific for the glucose or galactose configuration of their substrates. Their respective deficiencies, causing inability to degrade keratan sulfate and heparan sulfate in one case and keratan sulfate and chondroitin-6-sulfate in the other, are responsible for different clinical phenotypes. |
| doi_str_mv | 10.1126/science.199.4324.79 |
| format | Article |
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Thomas</creator><creatorcontrib>Di Ferrante, Nicola ; Ginsberg, Leonard C. ; Donnelly, Patricia V. ; Di Ferrante, Daniela T. ; Caskey, C. Thomas</creatorcontrib><description>[1-$^{3}$H]Galactitol-6-sulfate, N-[1-$^{3}$H]acetylgalactosaminitol-6-sulfate, N-[1-$^{3}$H]acetylglucosaminitol-6-sulfate, N-acetylglucosamine-6-sulfate, and 6-sulfated tetrasaccharides from chondroitin-6-sulfate have been used for the measurement of 6-sulfatase activity of extracts of normal skin fibroblasts and of fibroblasts cultured from patients with genetic mucopolysaccharidoses. With these substrates, extracts of fibroblasts derived from Morquio patients lack or have greatly reduced activities for galactitol-6-sulfate, N-acetylgalactosaminitol-6-sulfate, and 6-sulfated tetrasaccharides but have normal activity for N-acetylglucosamine-6-sulfate and its alditol; those derived from a patient with a newly discovered mucopolysaccharidosis have greatly reduced activity for N-acetylglucosamine-6-sulfate and its alditol but normal activity for galactitol-6-sulfate, N-acetylgalactosaminitol-6-sulfate, and the 6-sulfated tetrasaccharides. These findings demonstrate the existence of two different hexosamine-6-sulfate sulfatases, specific for the glucose or galactose configuration of their substrates. Their respective deficiencies, causing inability to degrade keratan sulfate and heparan sulfate in one case and keratan sulfate and chondroitin-6-sulfate in the other, are responsible for different clinical phenotypes.</description><identifier>ISSN: 0036-8075</identifier><identifier>EISSN: 1095-9203</identifier><identifier>DOI: 10.1126/science.199.4324.79</identifier><identifier>PMID: 17569489</identifier><language>eng</language><publisher>United States: American Association for the Advancement of Science</publisher><subject>Acetylgalactosamine - analogs & derivatives ; Acetylgalactosamine - metabolism ; Acetylglucosamine - analogs & derivatives ; Acetylglucosamine - metabolism ; Cells, Cultured ; Centrifugation ; Child, Preschool ; Chondroitin Sulfates - metabolism ; Chondroitinsulfatases - deficiency ; Chondroitinsulfatases - metabolism ; Enzyme substrates ; Enzymes ; Fibroblasts ; Fibroblasts - enzymology ; Galactitol - metabolism ; Heparitin Sulfate - metabolism ; Humans ; Hydrogen-Ion Concentration ; Keratan Sulfate - metabolism ; Male ; Mucopolysaccharidoses ; Mucopolysaccharidoses - enzymology ; Mucopolysaccharidosis III - enzymology ; Mucopolysaccharidosis IV ; Mucopolysaccharidosis IV - enzymology ; Skin - cytology ; Skin - enzymology ; Substrate Specificity ; Sugar alcohols ; Sulfatases - deficiency ; Sulfatases - metabolism ; Sulfates ; Tetrasaccharides</subject><ispartof>Science (American Association for the Advancement of Science), 1978-01, Vol.199 (4324), p.79-81</ispartof><rights>Copyright 1978 American Association for the Advancement of Science</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c417t-a4b0b2795a139315e884339ce7698dcf68076c498e86fd7f5658fc92190cac803</citedby><cites>FETCH-LOGICAL-c417t-a4b0b2795a139315e884339ce7698dcf68076c498e86fd7f5658fc92190cac803</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/1745514$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/1745514$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>314,780,784,803,2884,2885,27924,27925,58017,58250</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17569489$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Di Ferrante, Nicola</creatorcontrib><creatorcontrib>Ginsberg, Leonard C.</creatorcontrib><creatorcontrib>Donnelly, Patricia V.</creatorcontrib><creatorcontrib>Di Ferrante, Daniela T.</creatorcontrib><creatorcontrib>Caskey, C. Thomas</creatorcontrib><title>Deficiencies of Glucosamine-6-Sulfate or Galactosamine-6-Sulfate Sulfatases Are Responsible for Different Mucopolysaccharidoses</title><title>Science (American Association for the Advancement of Science)</title><addtitle>Science</addtitle><description>[1-$^{3}$H]Galactitol-6-sulfate, N-[1-$^{3}$H]acetylgalactosaminitol-6-sulfate, N-[1-$^{3}$H]acetylglucosaminitol-6-sulfate, N-acetylglucosamine-6-sulfate, and 6-sulfated tetrasaccharides from chondroitin-6-sulfate have been used for the measurement of 6-sulfatase activity of extracts of normal skin fibroblasts and of fibroblasts cultured from patients with genetic mucopolysaccharidoses. With these substrates, extracts of fibroblasts derived from Morquio patients lack or have greatly reduced activities for galactitol-6-sulfate, N-acetylgalactosaminitol-6-sulfate, and 6-sulfated tetrasaccharides but have normal activity for N-acetylglucosamine-6-sulfate and its alditol; those derived from a patient with a newly discovered mucopolysaccharidosis have greatly reduced activity for N-acetylglucosamine-6-sulfate and its alditol but normal activity for galactitol-6-sulfate, N-acetylgalactosaminitol-6-sulfate, and the 6-sulfated tetrasaccharides. These findings demonstrate the existence of two different hexosamine-6-sulfate sulfatases, specific for the glucose or galactose configuration of their substrates. Their respective deficiencies, causing inability to degrade keratan sulfate and heparan sulfate in one case and keratan sulfate and chondroitin-6-sulfate in the other, are responsible for different clinical phenotypes.</description><subject>Acetylgalactosamine - analogs & derivatives</subject><subject>Acetylgalactosamine - metabolism</subject><subject>Acetylglucosamine - analogs & derivatives</subject><subject>Acetylglucosamine - metabolism</subject><subject>Cells, Cultured</subject><subject>Centrifugation</subject><subject>Child, Preschool</subject><subject>Chondroitin Sulfates - metabolism</subject><subject>Chondroitinsulfatases - deficiency</subject><subject>Chondroitinsulfatases - metabolism</subject><subject>Enzyme substrates</subject><subject>Enzymes</subject><subject>Fibroblasts</subject><subject>Fibroblasts - enzymology</subject><subject>Galactitol - metabolism</subject><subject>Heparitin Sulfate - metabolism</subject><subject>Humans</subject><subject>Hydrogen-Ion Concentration</subject><subject>Keratan Sulfate - metabolism</subject><subject>Male</subject><subject>Mucopolysaccharidoses</subject><subject>Mucopolysaccharidoses - enzymology</subject><subject>Mucopolysaccharidosis III - enzymology</subject><subject>Mucopolysaccharidosis IV</subject><subject>Mucopolysaccharidosis IV - enzymology</subject><subject>Skin - cytology</subject><subject>Skin - enzymology</subject><subject>Substrate Specificity</subject><subject>Sugar alcohols</subject><subject>Sulfatases - deficiency</subject><subject>Sulfatases - metabolism</subject><subject>Sulfates</subject><subject>Tetrasaccharides</subject><issn>0036-8075</issn><issn>1095-9203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1978</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNplkEtLAzEUhYMoWqu_QJFZuZuaTN5LsVoFRfCxDml6g5HppCYzC1f-dVNbUHB1F-d8B-6H0AnBE0IacZFdgM7BhGg9YbRhE6l30IhgzWvdYLqLRhhTUSss-QE6zPkd45Jpuo8OiORCM6VH6GsKPvwMBchV9NWsHVzMdhk6qEX9PLTe9lDFVM1sa13_P9pcmwt-maB6gryKXQ7zFipfsGnwHhJ0ffVQhlex_czWuTebwiIW5gjtedtmON7eMXq9uX65uq3vH2d3V5f3tWNE9rVlczxvpOaWUE0JB6UYpdqBFFotnBflS-GYVqCEX0jPBVfe6YZo7KxTmI7R-WZ3leLHALk3y5AdtK3tIA7ZSMYUwZKWIt0UXYo5J_BmlcLSpk9DsFl7N1vvpng3a-9G6kKdbeeH-RIWv8xWdCmcbgrvuY_pT844J4x-A-dxi7A</recordid><startdate>19780106</startdate><enddate>19780106</enddate><creator>Di Ferrante, Nicola</creator><creator>Ginsberg, Leonard C.</creator><creator>Donnelly, Patricia V.</creator><creator>Di Ferrante, Daniela T.</creator><creator>Caskey, C. Thomas</creator><general>American Association for the Advancement of Science</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19780106</creationdate><title>Deficiencies of Glucosamine-6-Sulfate or Galactosamine-6-Sulfate Sulfatases Are Responsible for Different Mucopolysaccharidoses</title><author>Di Ferrante, Nicola ; Ginsberg, Leonard C. ; Donnelly, Patricia V. ; Di Ferrante, Daniela T. ; Caskey, C. Thomas</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c417t-a4b0b2795a139315e884339ce7698dcf68076c498e86fd7f5658fc92190cac803</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1978</creationdate><topic>Acetylgalactosamine - analogs & derivatives</topic><topic>Acetylgalactosamine - metabolism</topic><topic>Acetylglucosamine - analogs & derivatives</topic><topic>Acetylglucosamine - metabolism</topic><topic>Cells, Cultured</topic><topic>Centrifugation</topic><topic>Child, Preschool</topic><topic>Chondroitin Sulfates - metabolism</topic><topic>Chondroitinsulfatases - deficiency</topic><topic>Chondroitinsulfatases - metabolism</topic><topic>Enzyme substrates</topic><topic>Enzymes</topic><topic>Fibroblasts</topic><topic>Fibroblasts - enzymology</topic><topic>Galactitol - metabolism</topic><topic>Heparitin Sulfate - metabolism</topic><topic>Humans</topic><topic>Hydrogen-Ion Concentration</topic><topic>Keratan Sulfate - metabolism</topic><topic>Male</topic><topic>Mucopolysaccharidoses</topic><topic>Mucopolysaccharidoses - enzymology</topic><topic>Mucopolysaccharidosis III - enzymology</topic><topic>Mucopolysaccharidosis IV</topic><topic>Mucopolysaccharidosis IV - enzymology</topic><topic>Skin - cytology</topic><topic>Skin - enzymology</topic><topic>Substrate Specificity</topic><topic>Sugar alcohols</topic><topic>Sulfatases - deficiency</topic><topic>Sulfatases - metabolism</topic><topic>Sulfates</topic><topic>Tetrasaccharides</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Di Ferrante, Nicola</creatorcontrib><creatorcontrib>Ginsberg, Leonard C.</creatorcontrib><creatorcontrib>Donnelly, Patricia V.</creatorcontrib><creatorcontrib>Di Ferrante, Daniela T.</creatorcontrib><creatorcontrib>Caskey, C. Thomas</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Science (American Association for the Advancement of Science)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Di Ferrante, Nicola</au><au>Ginsberg, Leonard C.</au><au>Donnelly, Patricia V.</au><au>Di Ferrante, Daniela T.</au><au>Caskey, C. Thomas</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Deficiencies of Glucosamine-6-Sulfate or Galactosamine-6-Sulfate Sulfatases Are Responsible for Different Mucopolysaccharidoses</atitle><jtitle>Science (American Association for the Advancement of Science)</jtitle><addtitle>Science</addtitle><date>1978-01-06</date><risdate>1978</risdate><volume>199</volume><issue>4324</issue><spage>79</spage><epage>81</epage><pages>79-81</pages><issn>0036-8075</issn><eissn>1095-9203</eissn><abstract>[1-$^{3}$H]Galactitol-6-sulfate, N-[1-$^{3}$H]acetylgalactosaminitol-6-sulfate, N-[1-$^{3}$H]acetylglucosaminitol-6-sulfate, N-acetylglucosamine-6-sulfate, and 6-sulfated tetrasaccharides from chondroitin-6-sulfate have been used for the measurement of 6-sulfatase activity of extracts of normal skin fibroblasts and of fibroblasts cultured from patients with genetic mucopolysaccharidoses. With these substrates, extracts of fibroblasts derived from Morquio patients lack or have greatly reduced activities for galactitol-6-sulfate, N-acetylgalactosaminitol-6-sulfate, and 6-sulfated tetrasaccharides but have normal activity for N-acetylglucosamine-6-sulfate and its alditol; those derived from a patient with a newly discovered mucopolysaccharidosis have greatly reduced activity for N-acetylglucosamine-6-sulfate and its alditol but normal activity for galactitol-6-sulfate, N-acetylgalactosaminitol-6-sulfate, and the 6-sulfated tetrasaccharides. These findings demonstrate the existence of two different hexosamine-6-sulfate sulfatases, specific for the glucose or galactose configuration of their substrates. Their respective deficiencies, causing inability to degrade keratan sulfate and heparan sulfate in one case and keratan sulfate and chondroitin-6-sulfate in the other, are responsible for different clinical phenotypes.</abstract><cop>United States</cop><pub>American Association for the Advancement of Science</pub><pmid>17569489</pmid><doi>10.1126/science.199.4324.79</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0036-8075 |
| ispartof | Science (American Association for the Advancement of Science), 1978-01, Vol.199 (4324), p.79-81 |
| issn | 0036-8075 1095-9203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_74481073 |
| source | American Association for the Advancement of Science; Jstor Complete Legacy; MEDLINE |
| subjects | Acetylgalactosamine - analogs & derivatives Acetylgalactosamine - metabolism Acetylglucosamine - analogs & derivatives Acetylglucosamine - metabolism Cells, Cultured Centrifugation Child, Preschool Chondroitin Sulfates - metabolism Chondroitinsulfatases - deficiency Chondroitinsulfatases - metabolism Enzyme substrates Enzymes Fibroblasts Fibroblasts - enzymology Galactitol - metabolism Heparitin Sulfate - metabolism Humans Hydrogen-Ion Concentration Keratan Sulfate - metabolism Male Mucopolysaccharidoses Mucopolysaccharidoses - enzymology Mucopolysaccharidosis III - enzymology Mucopolysaccharidosis IV Mucopolysaccharidosis IV - enzymology Skin - cytology Skin - enzymology Substrate Specificity Sugar alcohols Sulfatases - deficiency Sulfatases - metabolism Sulfates Tetrasaccharides |
| title | Deficiencies of Glucosamine-6-Sulfate or Galactosamine-6-Sulfate Sulfatases Are Responsible for Different Mucopolysaccharidoses |
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