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.
Centro Europeo Ricerca sul Cervello, IRCCS-Fondazione Santa Lucia, Roma, Italy.
Simona
S
D'Aguanno
Alessandra
A
Barassi
Santina
S
Lupisella
Gianlodovico Melzi
GM
d'eril
Piero
P
Del Boccio
Damiana
D
Pieragostino
Francesco
F
Pallotti
Valerio
V
Carelli
Maria Lucia
ML
Valentino
Rocco
R
Liguori
Patrizia
P
Avoni
Sergio
S
Bernardini
Domenico
D
Gambi
Andrea
A
Urbani
Giorgio
G
Federici
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