Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease
Neuronal Ceroid Lipofuscinoses (NCLs) have an incidence of 1 in 12,500 live births. These devastating neurodegenerative lysosomal storage diseases are characterized by the lysosomal accumulation of autofluorescent storage material (AFSM) similar to that seen in aging cells. Using patient derived lym...
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| Veröffentlicht in: | Biochemical and biophysical research communications 2009-05, Vol.382 (2), p.247-251 |
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| creator | Seehafer, Sabrina S. Pearce, David A. |
| description | Neuronal Ceroid Lipofuscinoses (NCLs) have an incidence of 1 in 12,500 live births. These devastating neurodegenerative lysosomal storage diseases are characterized by the lysosomal accumulation of autofluorescent storage material (AFSM) similar to that seen in aging cells. Using patient derived lymphoblasts from three genetically distinct NCLs we report that AFSM for each NCL has distinct spectral properties. Moreover, by using pharmacological inhibitors to disrupt various biochemical pathways in normal control lymphoblasts we have determined that disruptions in microtubule assembly and non-muscle myosin II function results in accumulation of lysosomal AFSM. Interestingly, inhibition of autophagy did not result in AFSM. We conclude that cellular disturbances outside the lysosome in addition to compromised function of this organelle can result in accumulation of lysosomal AFSM in NCLs and possibly as a result of cellular aging. |
| doi_str_mv | 10.1016/j.bbrc.2009.02.099 |
| format | Article |
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These devastating neurodegenerative lysosomal storage diseases are characterized by the lysosomal accumulation of autofluorescent storage material (AFSM) similar to that seen in aging cells. Using patient derived lymphoblasts from three genetically distinct NCLs we report that AFSM for each NCL has distinct spectral properties. Moreover, by using pharmacological inhibitors to disrupt various biochemical pathways in normal control lymphoblasts we have determined that disruptions in microtubule assembly and non-muscle myosin II function results in accumulation of lysosomal AFSM. Interestingly, inhibition of autophagy did not result in AFSM. We conclude that cellular disturbances outside the lysosome in addition to compromised function of this organelle can result in accumulation of lysosomal AFSM in NCLs and possibly as a result of cellular aging.</description><identifier>ISSN: 0006-291X</identifier><identifier>EISSN: 1090-2104</identifier><identifier>DOI: 10.1016/j.bbrc.2009.02.099</identifier><identifier>PMID: 19248764</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Autofluorescent storage material ; Cellular Senescence ; Child ; Child, Preschool ; Female ; Fluorescence ; Humans ; Lysosomes - metabolism ; Male ; Microtubule assembly ; Microtubules - metabolism ; Myosin Type II - metabolism ; Neuronal Ceroid Lipofuscinosis ; Neuronal Ceroid-Lipofuscinoses - metabolism ; Neuronal Ceroid-Lipofuscinoses - pathology ; Non-muscle myosin II ; Spectrometry, Fluorescence</subject><ispartof>Biochemical and biophysical research communications, 2009-05, Vol.382 (2), p.247-251</ispartof><rights>2009 Elsevier Inc.</rights><rights>2009 Elsevier Inc. All rights reserved. 2009</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c484t-f313aa7189ba933ae715b53c45abee106c76687916dd4bcb3711f92cdd0eaca63</citedby><cites>FETCH-LOGICAL-c484t-f313aa7189ba933ae715b53c45abee106c76687916dd4bcb3711f92cdd0eaca63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0006291X09003556$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19248764$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Seehafer, Sabrina S.</creatorcontrib><creatorcontrib>Pearce, David A.</creatorcontrib><title>Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease</title><title>Biochemical and biophysical research communications</title><addtitle>Biochem Biophys Res Commun</addtitle><description>Neuronal Ceroid Lipofuscinoses (NCLs) have an incidence of 1 in 12,500 live births. These devastating neurodegenerative lysosomal storage diseases are characterized by the lysosomal accumulation of autofluorescent storage material (AFSM) similar to that seen in aging cells. Using patient derived lymphoblasts from three genetically distinct NCLs we report that AFSM for each NCL has distinct spectral properties. Moreover, by using pharmacological inhibitors to disrupt various biochemical pathways in normal control lymphoblasts we have determined that disruptions in microtubule assembly and non-muscle myosin II function results in accumulation of lysosomal AFSM. Interestingly, inhibition of autophagy did not result in AFSM. We conclude that cellular disturbances outside the lysosome in addition to compromised function of this organelle can result in accumulation of lysosomal AFSM in NCLs and possibly as a result of cellular aging.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Autofluorescent storage material</subject><subject>Cellular Senescence</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Fluorescence</subject><subject>Humans</subject><subject>Lysosomes - metabolism</subject><subject>Male</subject><subject>Microtubule assembly</subject><subject>Microtubules - metabolism</subject><subject>Myosin Type II - metabolism</subject><subject>Neuronal Ceroid Lipofuscinosis</subject><subject>Neuronal Ceroid-Lipofuscinoses - metabolism</subject><subject>Neuronal Ceroid-Lipofuscinoses - pathology</subject><subject>Non-muscle myosin II</subject><subject>Spectrometry, Fluorescence</subject><issn>0006-291X</issn><issn>1090-2104</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU2P1SAUhonRONfRP-DCsHLXyqGUXhJjohOdMZnEhZq4QwqnXm5aqEAn8d_b5t74sdEVC57zcl4eQp4Cq4GBfHGs-z7ZmjOmasZrptQ9sgOmWMWBiftkxxiTFVfw5YI8yvnIGICQ6iG5AMXFvpNiR75-nNGWZEY6pzhjKh4zNcHRCe3BBJ-nTMvBFLoEh2n0SM1S4jAuMWG2GAo11i7TMpriY8jUB_rGlIKBOp_RZHxMHgxmzPjkfF6Sz-_efrq6qW4_XL-_en1bWbEXpRoaaIzpYK96o5rGYAdt3zZWtKZHBCZtJ-W-UyCdE73tmw5gUNw6x9BYI5tL8uqUOy_9hG5bbW2l5-Qnk37oaLz--yb4g_4W77QA3gBsAc_PASl-XzAXPfm14TiagHHJWq4virb9P8hZCwo6sYL8BNoUc044_NoGmN4M6qPeDOrNoGZcrwbXoWd_9vg9cla2Ai9PAK6_eecx6Ww9BovOp1WldtH_K_8nwdKwmQ</recordid><startdate>20090501</startdate><enddate>20090501</enddate><creator>Seehafer, Sabrina S.</creator><creator>Pearce, David A.</creator><general>Elsevier Inc</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>7TK</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20090501</creationdate><title>Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease</title><author>Seehafer, Sabrina S. ; Pearce, David A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c484t-f313aa7189ba933ae715b53c45abee106c76687916dd4bcb3711f92cdd0eaca63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Autofluorescent storage material</topic><topic>Cellular Senescence</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Female</topic><topic>Fluorescence</topic><topic>Humans</topic><topic>Lysosomes - metabolism</topic><topic>Male</topic><topic>Microtubule assembly</topic><topic>Microtubules - metabolism</topic><topic>Myosin Type II - metabolism</topic><topic>Neuronal Ceroid Lipofuscinosis</topic><topic>Neuronal Ceroid-Lipofuscinoses - metabolism</topic><topic>Neuronal Ceroid-Lipofuscinoses - pathology</topic><topic>Non-muscle myosin II</topic><topic>Spectrometry, Fluorescence</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Seehafer, Sabrina S.</creatorcontrib><creatorcontrib>Pearce, David A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Biochemical and biophysical research communications</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Seehafer, Sabrina S.</au><au>Pearce, David A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease</atitle><jtitle>Biochemical and biophysical research communications</jtitle><addtitle>Biochem Biophys Res Commun</addtitle><date>2009-05-01</date><risdate>2009</risdate><volume>382</volume><issue>2</issue><spage>247</spage><epage>251</epage><pages>247-251</pages><issn>0006-291X</issn><eissn>1090-2104</eissn><abstract>Neuronal Ceroid Lipofuscinoses (NCLs) have an incidence of 1 in 12,500 live births. 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| ispartof | Biochemical and biophysical research communications, 2009-05, Vol.382 (2), p.247-251 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adolescent Adult Autofluorescent storage material Cellular Senescence Child Child, Preschool Female Fluorescence Humans Lysosomes - metabolism Male Microtubule assembly Microtubules - metabolism Myosin Type II - metabolism Neuronal Ceroid Lipofuscinosis Neuronal Ceroid-Lipofuscinoses - metabolism Neuronal Ceroid-Lipofuscinoses - pathology Non-muscle myosin II Spectrometry, Fluorescence |
| title | Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease |
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