Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis.
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.
D'Aguanno
Simona
S
Centro Europeo Ricerca sul Cervello, IRCCS-Fondazione Santa Lucia, Roma, Italy.
Barassi
Alessandra
A
Lupisella
Santina
S
d'eril
Gianlodovico Melzi
GM
Del Boccio
Piero
P
Pieragostino
Damiana
D
Pallotti
Francesco
F
Carelli
Valerio
V
Valentino
Maria Lucia
ML
Liguori
Rocco
R
Avoni
Patrizia
P
Bernardini
Sergio
S
Gambi
Domenico
D
Urbani
Andrea
A
Federici
Giorgio
G
D001054:Apolipoproteins A / Q000134:cerebrospinal fluid; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis*; D015180:Electrophoresis, Gel, Two-Dimensional; D006801:Humans; D007074:Immunoglobulin G / Q000134:cerebrospinal fluid; D009103:Multiple Sclerosis / Q000134:cerebrospinal fluid*; D029242:Optic Atrophy, Hereditary, Leber / Q000134:cerebrospinal fluid*; D011228:Prealbumin / Q000134:cerebrospinal fluid; D020543:Proteome / Q000032:analysis*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
D001054:Apolipoproteins A; D002556:Cerebrospinal Fluid Proteins; D007074:Immunoglobulin G; D011228:Prealbumin; D020543:Proteome; C022205:apolipoprotein A-IV