Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON)

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dc.contributor.author Guy, John
dc.contributor.author Shaw, Gerry
dc.contributor.author Ross-Cisneros, Fred N.
dc.contributor.author Quiros, Peter
dc.contributor.author Salomão, Solange Rios [UNIFESP]
dc.contributor.author Berezovsky, Adriana [UNIFESP]
dc.contributor.author Carelli, Valerio
dc.contributor.author Feuer, William J.
dc.contributor.author Sadun, Alfredo Arrigo
dc.date.accessioned 2018-06-18T11:04:10Z
dc.date.available 2018-06-18T11:04:10Z
dc.date.issued 2008-12-22
dc.identifier http://www.molvis.org/molvis/v14/a281/
dc.identifier.citation Molecular Vision. Atlanta: Molecular Vision, v. 14, n. 281, p. 2443-2450, 2008.
dc.identifier.issn 1090-0535
dc.identifier.uri http://repositorio.unifesp.br/11600/44933
dc.description.abstract Purpose: To determine the profile of neurodegeneration in Leber hereditary optic neuropathy (LHON).Methods: We quantitated serum levels of phosphorylated neurofilament heavy chain (pNF-H) in a Brazilian pedigree of 16 affected patients and 59 carriers with LHON, both molecularly characterized as harboring the G to A mutation at nucleotide 11,778 of the mitochondrial genome. The association of subject characteristics to pNF-H levels was studied with multiple regression; pNF-H data were square-root transformed to effect normality of distribution of residuals. Relationships between the square-root of pNF-H and age and sex were investigated within groups with Pearson correlation and the two-sample t-test. Linear regression was used to assess the difference between groups and to determine if the relationship of age was different between affected individuals and carriers. Results of plotting pNF-H levels by age suggested a nonlinear, quadratic association so age squared was used in the statistical analysis. ANCOVA was used to assess the influence of age and group on pNF-H levels.Results: In the carrier group, there was a significant correlation of square-root pNF-H (mean=0.24 ng/ml(2)) with age (r=0.30, p=0.022) and a stronger correlation with quadratic age (r=0.37, p=0.003). With a higher mean pNF-H (0.33 ng/ml2) for the affected group, correlations were of similar magnitude, although they were not statistically significant: age (r=0.22, p=0.42), quadratic age (r=0.22, p=0.45). There was no correlation between age and pNF-H levels (mean=0.34 ng/ml(2)) in the off-pedigree group: age (r=0.03, p=0.87), quadratic age (r=0.04, p=0.84). There was no difference between sexes and pNF-H levels in any of the groups ( affected, p=0.65; carriers, p=0.19; off-pedigree, p=0.93).Conclusions: Elevated pNF-H released into the serum of some affected LHON patients may suggest that axonal degeneration occurs at some point after loss of visual function. Increases in pNF-H levels of carriers with increasing age, not seen in off-pedigree controls, may suggest subtle subclinical optic nerve degeneration. en
dc.format.extent 2443-2450
dc.language.iso eng
dc.publisher Molecular Vision
dc.relation.ispartof Molecular Vision
dc.rights Acesso aberto
dc.title Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON) en
dc.type Artigo
dc.contributor.institution Bascom Palmer Eye Inst
dc.contributor.institution Univ Miami
dc.contributor.institution Univ Florida
dc.contributor.institution Doheny Eye Inst
dc.contributor.institution Keck USC Sch Med
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Univ Bologna
dc.description.affiliation Bascom Palmer Eye Inst, McKnight Vis Res Ctr, Miami, FL 33136 USA
dc.description.affiliation Univ Miami, Miller Sch Med, Dept Ophthalmol, Miami, FL 33136 USA
dc.description.affiliation Univ Florida, Dept Neurosci, McKnight Brain Inst, Coll Med, Gainesville, FL 32610 USA
dc.description.affiliation Doheny Eye Inst, Dept Ophthalmol, Los Angeles, CA 90033 USA
dc.description.affiliation Keck USC Sch Med, Los Angeles, CA USA
dc.description.affiliation Doheny Eye Inst, Dept Neurosurg, Los Angeles, CA 90033 USA
dc.description.affiliation Univ Fed Sao Paulo, Dept Ophthalmol, Sao Paulo, Brazil
dc.description.affiliation Univ Bologna, Dipartimento Sci Neurol, Bologna, Italy
dc.description.affiliationUnifesp Univ Fed Sao Paulo, Dept Ophthalmol, Sao Paulo, Brazil
dc.description.sponsorshipID EY018600-01
dc.description.sponsorshipID 1R01EY017141-01A2
dc.description.sponsorshipID EY014801
dc.description.source Web of Science
dc.identifier.wos WOS:000263857200001



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