Proteomic analysis of amniotic fluid in pregnancies with Down syndrome.
Proteomic analysis is widely used for the detection of diagnostic markers. In the present study amniotic fluid supernatants (AFS) from pregnancies with Down syndrome (DS) fetuses and from chromosomally normal fetuses in the 17th week of gestation were analyzed by 2-DE. Gel comparison revealed significant differences in the two groups. Spots with different expression levels were excised and proteins were identified by MALDI-MS and nano-ESI-MS/MS. Splicing factor arginine/serine-rich 4 (SFRS4; Q08170) was present only in AFS from DS fetuses and completely absent in the control group. Quantitative differences were detected for alpha-1-microglobulin (AMBP; P02760), collagen alpha 1 (I) chain (CO1A1; P02452), collagen alpha 1 (III) chain (CO3A1; P02461), collagen alpha 1 (V) chain d (CO5A1; P20908), and basement membrane-specific heparin sulfate proteoglycan core protein (PGBM; P98160). These proteins were increased in cases with DS, whereas protein IBP-1 (P08833) was decreased by 40% compared with chromosomally normal fetuses. Four proteins, CO1A1, CO3A1, CO5A1, and PGBM, appeared as fragments. As differentially expressed proteins were present in all pregnancies with DS tested, they may represent useful potential markers for prenatal diagnosis. However, for protein biomarkers to be of any clinical utility, systematic analysis of the maternal serum should be conducted.
Tsangaris
George Th
GT
Division of Biotechnology, Centre of Basic Research, Foundation for Biomedical Research of the Academy of Athens, Athens, Greece. gthsangaris@biocademy.gr
Karamessinis
Panagiotis
P
Kolialexi
Aggeliki
A
Garbis
Spiros D
SD
Antsaklis
Aris
A
Mavrou
Ariadni
A
Fountoulakis
Michael
M
D000595:Amino Acid Sequence; D000653:Amniotic Fluid / Q000378:metabolism*; D015153:Blotting, Western; D004314:Down Syndrome / Q000378:metabolism* / Q000473:pathology; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D006801:Humans; D018970:Insulin-Like Growth Factor Binding Protein 1 / Q000032:analysis / Q000378:metabolism; D008969:Molecular Sequence Data; D011247:Pregnancy; D020543:Proteome / Q000032:analysis / Q000378:metabolism; D040901:Proteomics / Q000379:methods*; D021241:Spectrometry, Mass, Electrospray Ionization; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
C032231:IGFBP1 protein, human; D018970:Insulin-Like Growth Factor Binding Protein 1; D020543:Proteome