Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis

Simona D'Aguanno, Alessandra Barassi, Santina Lupisella, Gianlodovico Melzi d'eril, Piero Del Boccio, Damiana Pieragostino, Francesco Pallotti, Valerio Carelli, Maria Lucia Valentino, Rocco Liguori, Patrizia Avoni, Sergio Bernardini, Domenico Gambi, Andrea Urbani, Giorgio Federici

Research output: Contribution to journalArticle

Abstract

Leber's hereditary optic neuropathy (LHON) is a genetic disease leading to the loss of central vision and optic nerve atrophy. The existence of occasional cases of LHON patients developing a Multiple Sclerosis (MS)-like illness and the hypothesis that mtDNA variants may be involved in MS suggest the possibility of some common molecular mechanisms linking the two diseases. We have pursued a comparative proteomics approach on cerebrospinal fluid (CSF) samples from LHON and MS patients, as well as healthy donors by employing 2-DE gel separations coupled to MALDI-TOF-MS and nLC-MS/MS investigations. 7 protein spots showed significant differential distribution among the three groups. Both CSF of LHON or MS patients are characterized by lower level of transthyretin dimer adduct while a specific up regulation of Apo A-IV was detected in LHON CSF.

Original languageEnglish
Pages (from-to)156-160
Number of pages5
JournalJournal of Neuroimmunology
Volume193
Issue number1-2
DOIs
Publication statusPublished - Jan 2008

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Leber's Hereditary Optic Atrophy
Proteome
Multiple Sclerosis
Cerebrospinal Fluid
Optic Atrophy
Inborn Genetic Diseases
Prealbumin
Matrix-Assisted Laser Desorption-Ionization Mass Spectrometry
Optic Nerve
Mitochondrial DNA
Proteomics
Up-Regulation
Gels
Tissue Donors

Keywords

  • Biomarkers
  • CSF
  • Leber hereditary optic neuropathy
  • Multiple sclerosis
  • Proteomics

ASJC Scopus subject areas

  • Immunology
  • Clinical Neurology
  • Immunology and Allergy
  • Neurology

Cite this

Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis. / D'Aguanno, Simona; Barassi, Alessandra; Lupisella, Santina; d'eril, Gianlodovico Melzi; Del Boccio, Piero; Pieragostino, Damiana; Pallotti, Francesco; Carelli, Valerio; Valentino, Maria Lucia; Liguori, Rocco; Avoni, Patrizia; Bernardini, Sergio; Gambi, Domenico; Urbani, Andrea; Federici, Giorgio.

In: Journal of Neuroimmunology, Vol. 193, No. 1-2, 01.2008, p. 156-160.

Research output: Contribution to journalArticle

D'Aguanno, Simona ; Barassi, Alessandra ; Lupisella, Santina ; d'eril, Gianlodovico Melzi ; Del Boccio, Piero ; Pieragostino, Damiana ; Pallotti, Francesco ; Carelli, Valerio ; Valentino, Maria Lucia ; Liguori, Rocco ; Avoni, Patrizia ; Bernardini, Sergio ; Gambi, Domenico ; Urbani, Andrea ; Federici, Giorgio. / Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis. In: Journal of Neuroimmunology. 2008 ; Vol. 193, No. 1-2. pp. 156-160.
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