PUBLICATION
Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain
- Authors
- Shin, J.H., Weitzdoerfer, R., Fountoulakis, M., and Lubec, G.
- ID
- ZDB-PUB-040415-2
- Date
- 2004
- Source
- Neurochemistry international 45(1): 73-79 (Journal)
- Registered Authors
- Keywords
- Chromosome 21, Two-dimensional gel electrophoresis, ES1, Down syndrome, Fetal brain
- MeSH Terms
-
- Basic Helix-Loop-Helix Transcription Factors
- Brain/embryology
- Brain/enzymology*
- Cystathionine beta-Synthase/biosynthesis*
- Cystathionine beta-Synthase/genetics
- Down Syndrome/embryology
- Down Syndrome/enzymology*
- Down Syndrome/genetics
- Female
- Fetus/enzymology
- Gene Expression Regulation, Developmental/physiology
- Homeodomain Proteins/biosynthesis*
- Homeodomain Proteins/genetics
- Humans
- Male
- Mitochondria/enzymology
- Mitochondria/genetics
- Proteins*
- Pyridoxal Kinase/biosynthesis*
- Pyridoxal Kinase/genetics
- Statistics, Nonparametric
- PubMed
- 15082224 Full text @ Neurochem. Int.
Citation
Shin, J.H., Weitzdoerfer, R., Fountoulakis, M., and Lubec, G. (2004) Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain. Neurochemistry international. 45(1):73-79.
Abstract
Down syndrome (DS) is the most common human chromosomal abnormality caused by an extra copy of chromosome 21 and characterized by somatic anomalies and mental retardation. The phenotype of DS is thought to result from overexpression of genes encoded on chromosome 21. Although several studies reported mRNA levels of genes localized on chromosome 21, mRNA data cannot be simply extrapolated to protein levels. Furthermore, most protein data have been generated using immunochemical methods. In this study we investigated expression of three proteins (cystathionine beta-synthase (CBS), pyridoxal kinase (PDXK), ES1 protein homolog, mitochondrial precursor (ES1)) whose genes are encoded on chromosome 21 in fetal DS ( [Formula: see text]; mean gestational age of [Formula: see text] weeks) and controls ( [Formula: see text]; mean gestational age of [Formula: see text] weeks) brains (cortex) using proteomic technologies. Two-dimensional electrophoresis (2-DE) with subsequent in-gel digestion of spots and matrix-assisted laser desorption ionization (MALDI) spectroscopic identification followed by quantification of spots with specific software was applied. Subsequent quantitative analysis of CBS and PDXK revealed levels comparable between DS and controls. By contrast, ES1 was two-fold elevated ( [Formula: see text] ) in fetal DS brain. This protein shows significant homology with the E. coli SCRP-27A/ELBB and zebrafish ES1 protein and contains a potential targeting sequence to mitochondria in its N-terminal region. Based on the assumption that structural similarities reflect functional relationship, it may be speculated that ES1 is serving a basic function in mitochondria. Although no function of the human ES1 protein is known yet, ES1 may be a candidate protein involved in the pathogenesis of the brain deficit in DS.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping