Deranged hypothetical proteins Rik protein, Nit protein 2 and mitochondrial inner membrane protein, Mitofilin, in fetal Down syndrome brain

Cell Mol Biol (Noisy-le-grand). 2003 Jul;49(5):739-46.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aborted Fetus / chemistry*
  • Cerebral Cortex / chemistry*
  • DNA-Binding Proteins / analysis*
  • Databases, Protein
  • Down Syndrome / embryology
  • Down Syndrome / metabolism*
  • Electrophoresis, Gel, Two-Dimensional
  • Electrophoresis, Polyacrylamide Gel
  • Elongin
  • Female
  • Fungal Proteins / analysis*
  • Humans
  • Hydrolysis
  • Image Processing, Computer-Assisted
  • Isoelectric Focusing
  • Isoelectric Point
  • Male
  • Membrane Proteins / analysis*
  • Mitochondrial Proteins
  • Molecular Weight
  • Muscle Proteins / analysis*
  • Peptide Mapping
  • Pregnancy
  • Proteins / analysis
  • Proteins / isolation & purification
  • RNA-Binding Proteins / analysis
  • SNARE Proteins
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
  • Trans-Activators / analysis
  • Transcription Factors / analysis*
  • Trypsin / metabolism
  • Vesicular Transport Proteins*

Substances

  • DNA-Binding Proteins
  • ELOA protein, human
  • Elongin
  • Fungal Proteins
  • IMMT protein, human
  • KHSRP protein, human
  • Membrane Proteins
  • Mitochondrial Proteins
  • Muscle Proteins
  • NIT2 protein, Neurospora crassa
  • Proteins
  • RNA-Binding Proteins
  • SNARE Proteins
  • Trans-Activators
  • Transcription Factors
  • Vesicular Transport Proteins
  • WRAP73 protein, human
  • Trypsin