Characterization of dentatorubral-pallidoluysian atrophy proteins using two-dimensional electrophoretic analysis

The genetic defect dentatorubral-pallidoluysian atrophy (DRPLA) is known to be an expansion of a CAG trinucleotide repeat. The mutant gene has been demonstrated to be translated into protein, and this protein contains an expanded polyglutamine region. In the present study, we have demonstrated using two-dimensional gel electrophoresis and immunoblotting that the DRPLA gene products consist of a number of isoelectric variants in brain tissue and lymphoblastoid cells. The identification of isoelectric variants indicates that there may be multiple stages of post-translational modification. DRPLA proteins from brain tissue possess fewer basic isoelectric variants than those from lymphoblastoid cells, suggesting that there is different post-translational modification steps in brain tissue and lymphoblastoid cell.