Mononuclear cells infiltrate degenerating muscles of Duchenne muscular
dystrophy (DMD) patients. Using a quantitative PCR, we first characte
rized the T cells infiltrating muscle biopsies from six DMD patients.
High levels of TCR V beta 2 transcripts were observed in DMD muscle ti
ssue. TCR V beta 2 transcripts from seven DMD patients and five contro
ls were sequenced, and the VDJ junctional region analyzed in 166 clone
s. One specific amino acid motif, RVSG, was found in the third complem
entary determining region (CDR3) of TCR V beta 2 chains in samples fro
m five DMD patients, but not in controls. A specific immune reaction a
t the site of tissue degeneration may play an important role in the pa
thogenesis of DMD.