Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients

Bibliographic Details
Main Author: Salgueiro Barboni, Mirella Telles
Publication Date: 2018
Other Authors: Bueno, Clarissa, Nagy, Balazs Vince, Maia, Patricia Lobo, Moreira Vidal, Kallene Summer, Alves, Rosana Cardoso, Reiter, Russel J., do Amaral, Fernanda Gaspar [UNIFESP], Cipolla-Neto, Jose, Ventura, Dora Fix
Format: Article
Language: eng
Source: Repositório Institucional da UNIFESP
Download full: https://repositorio.unifesp.br/handle/11600/53841
http://dx.doi.org/10.1167/iovs.17-22612
Summary: PURPOSE: Smith-Magenis syndrome (SMS) causes sleep disturbance that is related to an abnormal melatonin profile. It is not clear how the genomic disorder leads to a disturbed synchronization of the sleep/wake rhythm in SMS patients. To evaluate the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system, the transducers of the light-inhibitory effect on pineal melatonin synthesis, we recorded pupillary light responses (PLR) in SMS patients. METHODS: Subjects were SMS patients (n = 5), with molecular diagnosis and melatonin levels measured for 24 hours and healthy controls (n = 4). Visual stimuli were 1-second red light flashes (640 nm
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spelling Salgueiro Barboni, Mirella TellesBueno, ClarissaNagy, Balazs VinceMaia, Patricia LoboMoreira Vidal, Kallene SummerAlves, Rosana CardosoReiter, Russel J.do Amaral, Fernanda Gaspar [UNIFESP]Cipolla-Neto, JoseVentura, Dora Fix2020-07-02T18:52:02Z2020-07-02T18:52:02Z2018Investigative Ophthalmology & Visual Science. Rockville, v. 59, n. 1, p. 362-369, 2018.0146-0404https://repositorio.unifesp.br/handle/11600/53841http://dx.doi.org/10.1167/iovs.17-22612WOS000425855900044.pdf10.1167/iovs.17-22612WOS:000425855900044PURPOSE: Smith-Magenis syndrome (SMS) causes sleep disturbance that is related to an abnormal melatonin profile. It is not clear how the genomic disorder leads to a disturbed synchronization of the sleep/wake rhythm in SMS patients. To evaluate the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system, the transducers of the light-inhibitory effect on pineal melatonin synthesis, we recorded pupillary light responses (PLR) in SMS patients. METHODS: Subjects were SMS patients (n = 5), with molecular diagnosis and melatonin levels measured for 24 hours and healthy controls (n = 4). Visual stimuli were 1-second red light flashes (640 nminsignificant direct ipRGC activation), followed by a 470-nm blue light, near the melanopsin peak absorption region (direct ipRGC activation). Blue flashes produce a sustained pupillary constriction (ipRGC driven) followed by baseline return, while red flashes produce faster recovery. RESULTS: Pupillary light responses to 640-nm red flash were normal in SMS patients. In response to 470-nm blue flash, SMS patients had altered sustained responses shown by faster recovery to baseline. SMS patients showed impairment in the expected melatonin production suppression during the day, confirming previous reports. CONCLUSIONS: SMS patients show dysfunction in the sustained component of the PLR to blue light. It could explain their well-known abnormal melatonin profile and elevated circulating melatonin levels during the day. Synchronization of daily melatonin profile and its photoinhibition are dependent on the activation of melanopsin. This retinal dysfunction might be related to a deficit in melanopsin-based photoreception, but a deficit in rod function is also possible.Sao Paulo Research Foundation (FAPESP) [2014/26818-2, 2014/50457-0, 2016/04538-3, 2014/06457-5, 2015/22227-2, 2016/22007-5]National Council for Scientific and Technological Development (CNPq) [480428/2013-4, 470785/2014-4, 404239/2016-1]CAPES [3263/2013]Janos Bolyai Scholarship of the Hungarian Academy of SciencesUniv Sao Paulo, Dept Expt Psychol, Inst Psychol, Sao Paulo, BrazilSemmelweis Univ, Dept Ophthalmol, Budapest, HungaryUniv Sao Paulo, Dept Neurol, Fac Med, Sao Paulo, BrazilBudapest Univ Technol & Econ, Dept Mechatron Opt & Engn Informat, Budapest, HungaryUniv Texas San Antonio, Dept Cellular & Struct Biol, San Antonio, TX USAUniv Fed Sao Paulo, Dept Physiol, Sao Paulo, BrazilUniv Sao Paulo, Dept Physiol & Biophys, Inst Biomed Sci, Av Lineu Prestes 1524, BR-05508000 Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Physiol, Sao Paulo, BrazilFAPESP [2014/26818-2, 2014/50457-0, 2016/04538-3, 2014/06457-5, 2015/22227-2, 2016/22007-5]CNPq [480428/2013-4, 470785/2014-4, 404239/2016-1]CAPES [3263/2013]Web of Science362-369engAssoc Research Vision Ophthalmology IncInvestigative Ophthalmology & Visual ScienceretinaipRGCmelanopsinretinohypothalamic pathwaypupillary light reflexpupillometrySmith-Magenis syndromeMelanopsin System Dysfunction in Smith-Magenis Syndrome Patientsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleRockville591info:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESPORIGINALWOS000425855900044.pdfapplication/pdf966216${dspace.ui.url}/bitstream/11600/53841/1/WOS000425855900044.pdf67d2ae92430c4d5ab50d877c40b4627eMD51open accessTEXTWOS000425855900044.pdf.txtWOS000425855900044.pdf.txtExtracted texttext/plain41336${dspace.ui.url}/bitstream/11600/53841/2/WOS000425855900044.pdf.txtdb0c3a9267d58b3623cd5e4cabe5d95aMD52open accessTHUMBNAILWOS000425855900044.pdf.jpgWOS000425855900044.pdf.jpgIM Thumbnailimage/jpeg8719${dspace.ui.url}/bitstream/11600/53841/4/WOS000425855900044.pdf.jpgac18c38456e20a47aab3d97e9611d5aeMD54open access11600/538412022-08-01 09:03:22.098open accessoai:repositorio.unifesp.br:11600/53841Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652023-05-25T12:15:58.810665Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.en.fl_str_mv Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients
title Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients
spellingShingle Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients
Salgueiro Barboni, Mirella Telles
retina
ipRGC
melanopsin
retinohypothalamic pathway
pupillary light reflex
pupillometry
Smith-Magenis syndrome
title_short Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients
title_full Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients
title_fullStr Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients
title_full_unstemmed Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients
title_sort Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients
author Salgueiro Barboni, Mirella Telles
author_facet Salgueiro Barboni, Mirella Telles
Bueno, Clarissa
Nagy, Balazs Vince
Maia, Patricia Lobo
Moreira Vidal, Kallene Summer
Alves, Rosana Cardoso
Reiter, Russel J.
do Amaral, Fernanda Gaspar [UNIFESP]
Cipolla-Neto, Jose
Ventura, Dora Fix
author_role author
author2 Bueno, Clarissa
Nagy, Balazs Vince
Maia, Patricia Lobo
Moreira Vidal, Kallene Summer
Alves, Rosana Cardoso
Reiter, Russel J.
do Amaral, Fernanda Gaspar [UNIFESP]
Cipolla-Neto, Jose
Ventura, Dora Fix
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Salgueiro Barboni, Mirella Telles
Bueno, Clarissa
Nagy, Balazs Vince
Maia, Patricia Lobo
Moreira Vidal, Kallene Summer
Alves, Rosana Cardoso
Reiter, Russel J.
do Amaral, Fernanda Gaspar [UNIFESP]
Cipolla-Neto, Jose
Ventura, Dora Fix
dc.subject.eng.fl_str_mv retina
ipRGC
melanopsin
retinohypothalamic pathway
pupillary light reflex
pupillometry
Smith-Magenis syndrome
topic retina
ipRGC
melanopsin
retinohypothalamic pathway
pupillary light reflex
pupillometry
Smith-Magenis syndrome
description PURPOSE: Smith-Magenis syndrome (SMS) causes sleep disturbance that is related to an abnormal melatonin profile. It is not clear how the genomic disorder leads to a disturbed synchronization of the sleep/wake rhythm in SMS patients. To evaluate the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system, the transducers of the light-inhibitory effect on pineal melatonin synthesis, we recorded pupillary light responses (PLR) in SMS patients. METHODS: Subjects were SMS patients (n = 5), with molecular diagnosis and melatonin levels measured for 24 hours and healthy controls (n = 4). Visual stimuli were 1-second red light flashes (640 nm
publishDate 2018
dc.date.issued.fl_str_mv 2018
dc.date.accessioned.fl_str_mv 2020-07-02T18:52:02Z
dc.date.available.fl_str_mv 2020-07-02T18:52:02Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.citation.fl_str_mv Investigative Ophthalmology & Visual Science. Rockville, v. 59, n. 1, p. 362-369, 2018.
dc.identifier.uri.fl_str_mv https://repositorio.unifesp.br/handle/11600/53841
http://dx.doi.org/10.1167/iovs.17-22612
dc.identifier.issn.none.fl_str_mv 0146-0404
dc.identifier.file.none.fl_str_mv WOS000425855900044.pdf
dc.identifier.doi.none.fl_str_mv 10.1167/iovs.17-22612
dc.identifier.wos.none.fl_str_mv WOS:000425855900044
identifier_str_mv Investigative Ophthalmology & Visual Science. Rockville, v. 59, n. 1, p. 362-369, 2018.
0146-0404
WOS000425855900044.pdf
10.1167/iovs.17-22612
WOS:000425855900044
url https://repositorio.unifesp.br/handle/11600/53841
http://dx.doi.org/10.1167/iovs.17-22612
dc.language.iso.fl_str_mv eng
language eng
dc.relation.ispartof.none.fl_str_mv Investigative Ophthalmology & Visual Science
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eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 362-369
dc.coverage.none.fl_str_mv Rockville
dc.publisher.none.fl_str_mv Assoc Research Vision Ophthalmology Inc
publisher.none.fl_str_mv Assoc Research Vision Ophthalmology Inc
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
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