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Deranged hypothetical proteins Rik protein, Nit protein 2 and mitochondrial inner membrane protein, Mitofilin, in fetal Down syndrome brain.
- Source :
-
Cellular and molecular biology (Noisy-le-Grand, France) [Cell Mol Biol (Noisy-le-grand)] 2003 Jul; Vol. 49 (5), pp. 739-46. - Publication Year :
- 2003
-
Abstract
- Down syndrome (DS) is the most common genetic disorder with mental retardation and a host of deranged proteins has already been described. Protein hunting leads to rapid accumulation of aberrant proteins and proteomics methods not only allow unambiguous identification of proteins, they are also a powerful tools to identify new or predicted proteins. We applied two-dimensional gel electrophoresis with in-gel digestion of proteins and subsequent MALDI-TOF mass-spectrometrical identification and quantification of spots using specific software on cortical brain samples from 7 controls and 7 samples from fetal DS at the early second trimester. Nine hypothetical proteins were identified: three of them (4833418L03Rik protein Q9D614, mitochondrial inner membrane protein Q16891 and Nit protein 2 Q8WUF0) were significantly and about doublefold reduced in fetal DS brain. Hypothetical proteins CGI 99, FLJ10463, 70 kDa WD-repeat tumor rejection antigen homolog, KSRP, Hypothetical protein 49.6 kDa and Elongin A were comparable between groups. Domain analysis of deranged structures revealed a t_SNARE domain for the Rik protein, indicating involvement of this protein in the exocytotic-synaptic machinery impaired in DS, a CN hydrolase domain for Nit protein 2, possibly reflecting aberrant nitrilase-related metabolism and handling and an inner mitochondrial protein, extending knowledge on the mitochondrial deficit in in fetal DS early in life.
- Subjects :
- Databases, Protein
Down Syndrome embryology
Electrophoresis, Gel, Two-Dimensional
Electrophoresis, Polyacrylamide Gel
Elongin
Female
Humans
Hydrolysis
Image Processing, Computer-Assisted
Isoelectric Focusing
Isoelectric Point
Male
Mitochondrial Proteins
Molecular Weight
Peptide Mapping
Pregnancy
Proteins analysis
Proteins isolation & purification
RNA-Binding Proteins analysis
SNARE Proteins
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Trans-Activators analysis
Trypsin metabolism
Aborted Fetus chemistry
Cerebral Cortex chemistry
DNA-Binding Proteins analysis
Down Syndrome metabolism
Fungal Proteins analysis
Membrane Proteins analysis
Muscle Proteins analysis
Transcription Factors analysis
Vesicular Transport Proteins
Subjects
Details
- Language :
- English
- ISSN :
- 0145-5680
- Volume :
- 49
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Cellular and molecular biology (Noisy-le-Grand, France)
- Publication Type :
- Academic Journal
- Accession number :
- 14528910