DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY PROTEINS IN LYMPHOBLASTOID-CELLS

The genetic defect responsible for dentatorubral-pallidoluysian atroph y (DRPLA) is an expansion of a CAG trinucleotide repeat. The DRPLA gen e is translated into protein in the brain. In this study, we demonstra te that the wild-type and mutant genes are also translated into protei ns, p190 and p205, in lymphoblastoid cells. The correlation between th e age of onset and the expansion of polyglutamine stretch shown by slo wer electrophoretic mobility suggests that the polyglutamine stretch i s directly involved in the acceleration of the disease process. Moreov er, analysis of the protein in lymphoblastoid cells can be used as a d iagnostic procedure for DRPLA.