Characterization of plasma protein profiles from patients with neurofibromatosis I.
BACKGROUND
Neurofibromatosis type I (NF1) is a common autosomal dominant disorder, affecting approximately one in every 3500 individuals. Early diagnosis of NF1 can be ambiguous, and clinical symptoms are diverse. We compared plasma protein profiles between normal controls and NF1 patients for yielding important insights into the mechanisms underlying NF1 related tumor formation and diagnostic biomarkers to classify the diverse clinical symptoms.


METHODS
MALDI-TOF mass spectrometry was used to identify plasma proteins. Prior to that, a micro-solution isoelectric focusing (microsol-IEF) pre-fractionation combined with two-dimensional gel electrophoresis (2-DE) using the narrow pH range strip was applied to enhance the resolution and sensitivity.


RESULTS
There was a significant increase in fibrinogen level in patients with NF1. This increase in fibrinogen expression was subsequently confirmed by Western blotting assay. Furthermore, the effect of fibrinogen on cell growth was tested on PC12 cells.


CONCLUSIONS
Fibrinogen is the central protein associated with angiogenesis; a process which modulates tumor growth, the up-regulation of fibrinogen may help explain the development of neurofibromas in NF1 patients.
Wang
Pei-Wen
PW
Chang Gung Molecular Medicine Research Center, Chang Gung University, Tao-Yuan, Taiwan.
Pan
Tai-Long
TL
Lin
Chih-Hung
CH
Shen
Jiann-Jong
JJ
Chen
Yu-Ray
YR
D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood*; D001798:Blood Proteins / Q000032:analysis*; D016022:Case-Control Studies; D049109:Cell Proliferation; D002648:Child; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000097:blood* / Q000473:pathology; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
D015415:Biomarkers; D001798:Blood Proteins